Loading…
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities
Temtamy syndrome is a syndromic form of intellectual disability characterized by ocular involvement, epilepsy and dysgenesis of the corpus callosum. After we initially mapped the disease to C12orf57, we noted a high carrier frequency of an ancient startloss founder mutation [c.1A>G; p.M1?] in our...
Saved in:
| Published in: | American journal of medical genetics. Part A 2018-03, Vol.176 (3), p.715-721 |
|---|---|
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , |
| Format: | Article |
| Language: | English |
| Subjects: | |
| Citations: | Items that this one cites Items that cite this one |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| cited_by | cdi_FETCH-LOGICAL-c3645-a74e57d9ca340da4b186da1cb6f3fadbd4ea57de7dda9b15f3e893a61d0bfadf3 |
|---|---|
| cites | cdi_FETCH-LOGICAL-c3645-a74e57d9ca340da4b186da1cb6f3fadbd4ea57de7dda9b15f3e893a61d0bfadf3 |
| container_end_page | 721 |
| container_issue | 3 |
| container_start_page | 715 |
| container_title | American journal of medical genetics. Part A |
| container_volume | 176 |
| creator | Alrakaf, Laila Al‐Owain, Mohammed A. Busehail, Maryam Alotaibi, Maha A. Monies, Dorota Aldhalaan, Hesham M. Alhashem, Amal Al‐Hassnan, Zuhair N. Rahbeeni, Zuhair A. Murshedi, Fathiya Al Ani, Nadia Al Al‐Maawali, Almundher Ibrahim, Niema A. Abdulwahab, Firdous M. Alsagob, Maysoon Hashem, Mais O. Ramadan, Wafaa Abouelhoda, Mohamed Meyer, Brian F. Kaya, Namik Maddirevula, Sateesh Alkuraya, Fowzan S. |
| description | Temtamy syndrome is a syndromic form of intellectual disability characterized by ocular involvement, epilepsy and dysgenesis of the corpus callosum. After we initially mapped the disease to C12orf57, we noted a high carrier frequency of an ancient startloss founder mutation [c.1A>G; p.M1?] in our population, and variable phenotypic expressivity in newly identified cases. This study aims to combine 33 previously published patients with 23 who are described here for the first time to further delineate the phenotype of this syndrome. In addition to the known p.M1? founder, we describe four novel homozygous variants, thus increasing the number of Temtamy syndrome‐related C12orf57 variants to seven, all but one predicted to be loss of function. While all patients presented with intellectual disability/developmental delay, the frequency of other phenotypic features was variable: 73.2% (41/56) had epilepsy, 63% (34/54) had corpus callosal abnormalities, 14.5% (8/55) had coloboma, and 16.4% (9/55) had microphthalmia. Our analysis also revealed a high frequency of less recognized features such as congenital heart disease (51.4%), and brain white matter abnormalities (38%, 19/50). We conclude that C12orf57 variants should be considered in the etiology of developmental delay/intellectual disability, even when typical syndromic features are lacking, especially in those who trace their ancestry to Saudi Arabia where a founder C12orf57 mutation is among the most common recessive causes of intellectual disability. |
| doi_str_mv | 10.1002/ajmg.a.38615 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1993016899</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2002171650</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3645-a74e57d9ca340da4b186da1cb6f3fadbd4ea57de7dda9b15f3e893a61d0bfadf3</originalsourceid><addsrcrecordid>eNp9kD1PwzAQhi0EglLYmFEkFgZa7DjOx1hVfArEQJmtS3yBVHZc7EQo_x6Xlg4M6IY73T16dXoIOWN0yiiNr2Fp3qcw5XnKxB4ZMSHiSZJzvr-bY3FEjr1fUsqpyNJDchQXPA-Vjcjrbe-6D3SRQt20CF1j28jW0QJNB2aI_NAqZw2ud5V1q95HFWhtfW8iaFVkq16Di6BsrTOgm65Bf0IOatAeT7d9TN5ubxbz-8nTy93DfPY0qXiaiAlkCYpMFRXwhCpISpanClhVpjWvQZUqQQh3zJSComSi5pgXHFKmaBnuNR-Ty03uytnPHn0nTeMr1BpatL2XrCg4ZWke2phc_EGXtndt-E7GQSLLWCpooK42VOWs9w5ruXKNATdIRuVatlzLliB_ZAf8fBvalwbVDv61G4BkA3w1God_w-Ts8flutsn9BnjPjT4</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2002171650</pqid></control><display><type>article</type><title>Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities</title><source>Wiley</source><creator>Alrakaf, Laila ; Al‐Owain, Mohammed A. ; Busehail, Maryam ; Alotaibi, Maha A. ; Monies, Dorota ; Aldhalaan, Hesham M. ; Alhashem, Amal ; Al‐Hassnan, Zuhair N. ; Rahbeeni, Zuhair A. ; Murshedi, Fathiya Al ; Ani, Nadia Al ; Al‐Maawali, Almundher ; Ibrahim, Niema A. ; Abdulwahab, Firdous M. ; Alsagob, Maysoon ; Hashem, Mais O. ; Ramadan, Wafaa ; Abouelhoda, Mohamed ; Meyer, Brian F. ; Kaya, Namik ; Maddirevula, Sateesh ; Alkuraya, Fowzan S.</creator><creatorcontrib>Alrakaf, Laila ; Al‐Owain, Mohammed A. ; Busehail, Maryam ; Alotaibi, Maha A. ; Monies, Dorota ; Aldhalaan, Hesham M. ; Alhashem, Amal ; Al‐Hassnan, Zuhair N. ; Rahbeeni, Zuhair A. ; Murshedi, Fathiya Al ; Ani, Nadia Al ; Al‐Maawali, Almundher ; Ibrahim, Niema A. ; Abdulwahab, Firdous M. ; Alsagob, Maysoon ; Hashem, Mais O. ; Ramadan, Wafaa ; Abouelhoda, Mohamed ; Meyer, Brian F. ; Kaya, Namik ; Maddirevula, Sateesh ; Alkuraya, Fowzan S.</creatorcontrib><description>Temtamy syndrome is a syndromic form of intellectual disability characterized by ocular involvement, epilepsy and dysgenesis of the corpus callosum. After we initially mapped the disease to C12orf57, we noted a high carrier frequency of an ancient startloss founder mutation [c.1A>G; p.M1?] in our population, and variable phenotypic expressivity in newly identified cases. This study aims to combine 33 previously published patients with 23 who are described here for the first time to further delineate the phenotype of this syndrome. In addition to the known p.M1? founder, we describe four novel homozygous variants, thus increasing the number of Temtamy syndrome‐related C12orf57 variants to seven, all but one predicted to be loss of function. While all patients presented with intellectual disability/developmental delay, the frequency of other phenotypic features was variable: 73.2% (41/56) had epilepsy, 63% (34/54) had corpus callosal abnormalities, 14.5% (8/55) had coloboma, and 16.4% (9/55) had microphthalmia. Our analysis also revealed a high frequency of less recognized features such as congenital heart disease (51.4%), and brain white matter abnormalities (38%, 19/50). We conclude that C12orf57 variants should be considered in the etiology of developmental delay/intellectual disability, even when typical syndromic features are lacking, especially in those who trace their ancestry to Saudi Arabia where a founder C12orf57 mutation is among the most common recessive causes of intellectual disability.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.38615</identifier><identifier>PMID: 29383837</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>Agenesis of Corpus Callosum - diagnosis ; Agenesis of Corpus Callosum - epidemiology ; Agenesis of Corpus Callosum - genetics ; Alleles ; C12orf57 ; Coloboma - diagnosis ; Coloboma - epidemiology ; Coloboma - genetics ; colobomav ; Coronary artery disease ; Corpus callosum ; Craniofacial Abnormalities - diagnosis ; Craniofacial Abnormalities - epidemiology ; Craniofacial Abnormalities - genetics ; Epilepsy ; Etiology ; Eye Abnormalities - diagnosis ; Eye Abnormalities - genetics ; Facies ; Genetic Association Studies ; Genetic Predisposition to Disease ; global developmental delay ; Heart diseases ; Humans ; Intellectual disabilities ; Magnetic Resonance Imaging ; Microphthalmia ; Mutation ; Phenotype ; Phenotypes ; Prevalence ; Substantia alba ; Temtamy syndrome</subject><ispartof>American journal of medical genetics. Part A, 2018-03, Vol.176 (3), p.715-721</ispartof><rights>2018 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3645-a74e57d9ca340da4b186da1cb6f3fadbd4ea57de7dda9b15f3e893a61d0bfadf3</citedby><cites>FETCH-LOGICAL-c3645-a74e57d9ca340da4b186da1cb6f3fadbd4ea57de7dda9b15f3e893a61d0bfadf3</cites><orcidid>0000-0003-4158-341X</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,783,787,27936,27937</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29383837$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Alrakaf, Laila</creatorcontrib><creatorcontrib>Al‐Owain, Mohammed A.</creatorcontrib><creatorcontrib>Busehail, Maryam</creatorcontrib><creatorcontrib>Alotaibi, Maha A.</creatorcontrib><creatorcontrib>Monies, Dorota</creatorcontrib><creatorcontrib>Aldhalaan, Hesham M.</creatorcontrib><creatorcontrib>Alhashem, Amal</creatorcontrib><creatorcontrib>Al‐Hassnan, Zuhair N.</creatorcontrib><creatorcontrib>Rahbeeni, Zuhair A.</creatorcontrib><creatorcontrib>Murshedi, Fathiya Al</creatorcontrib><creatorcontrib>Ani, Nadia Al</creatorcontrib><creatorcontrib>Al‐Maawali, Almundher</creatorcontrib><creatorcontrib>Ibrahim, Niema A.</creatorcontrib><creatorcontrib>Abdulwahab, Firdous M.</creatorcontrib><creatorcontrib>Alsagob, Maysoon</creatorcontrib><creatorcontrib>Hashem, Mais O.</creatorcontrib><creatorcontrib>Ramadan, Wafaa</creatorcontrib><creatorcontrib>Abouelhoda, Mohamed</creatorcontrib><creatorcontrib>Meyer, Brian F.</creatorcontrib><creatorcontrib>Kaya, Namik</creatorcontrib><creatorcontrib>Maddirevula, Sateesh</creatorcontrib><creatorcontrib>Alkuraya, Fowzan S.</creatorcontrib><title>Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities</title><title>American journal of medical genetics. Part A</title><addtitle>Am J Med Genet A</addtitle><description>Temtamy syndrome is a syndromic form of intellectual disability characterized by ocular involvement, epilepsy and dysgenesis of the corpus callosum. After we initially mapped the disease to C12orf57, we noted a high carrier frequency of an ancient startloss founder mutation [c.1A>G; p.M1?] in our population, and variable phenotypic expressivity in newly identified cases. This study aims to combine 33 previously published patients with 23 who are described here for the first time to further delineate the phenotype of this syndrome. In addition to the known p.M1? founder, we describe four novel homozygous variants, thus increasing the number of Temtamy syndrome‐related C12orf57 variants to seven, all but one predicted to be loss of function. While all patients presented with intellectual disability/developmental delay, the frequency of other phenotypic features was variable: 73.2% (41/56) had epilepsy, 63% (34/54) had corpus callosal abnormalities, 14.5% (8/55) had coloboma, and 16.4% (9/55) had microphthalmia. Our analysis also revealed a high frequency of less recognized features such as congenital heart disease (51.4%), and brain white matter abnormalities (38%, 19/50). We conclude that C12orf57 variants should be considered in the etiology of developmental delay/intellectual disability, even when typical syndromic features are lacking, especially in those who trace their ancestry to Saudi Arabia where a founder C12orf57 mutation is among the most common recessive causes of intellectual disability.</description><subject>Agenesis of Corpus Callosum - diagnosis</subject><subject>Agenesis of Corpus Callosum - epidemiology</subject><subject>Agenesis of Corpus Callosum - genetics</subject><subject>Alleles</subject><subject>C12orf57</subject><subject>Coloboma - diagnosis</subject><subject>Coloboma - epidemiology</subject><subject>Coloboma - genetics</subject><subject>colobomav</subject><subject>Coronary artery disease</subject><subject>Corpus callosum</subject><subject>Craniofacial Abnormalities - diagnosis</subject><subject>Craniofacial Abnormalities - epidemiology</subject><subject>Craniofacial Abnormalities - genetics</subject><subject>Epilepsy</subject><subject>Etiology</subject><subject>Eye Abnormalities - diagnosis</subject><subject>Eye Abnormalities - genetics</subject><subject>Facies</subject><subject>Genetic Association Studies</subject><subject>Genetic Predisposition to Disease</subject><subject>global developmental delay</subject><subject>Heart diseases</subject><subject>Humans</subject><subject>Intellectual disabilities</subject><subject>Magnetic Resonance Imaging</subject><subject>Microphthalmia</subject><subject>Mutation</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Prevalence</subject><subject>Substantia alba</subject><subject>Temtamy syndrome</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><recordid>eNp9kD1PwzAQhi0EglLYmFEkFgZa7DjOx1hVfArEQJmtS3yBVHZc7EQo_x6Xlg4M6IY73T16dXoIOWN0yiiNr2Fp3qcw5XnKxB4ZMSHiSZJzvr-bY3FEjr1fUsqpyNJDchQXPA-Vjcjrbe-6D3SRQt20CF1j28jW0QJNB2aI_NAqZw2ud5V1q95HFWhtfW8iaFVkq16Di6BsrTOgm65Bf0IOatAeT7d9TN5ubxbz-8nTy93DfPY0qXiaiAlkCYpMFRXwhCpISpanClhVpjWvQZUqQQh3zJSComSi5pgXHFKmaBnuNR-Ty03uytnPHn0nTeMr1BpatL2XrCg4ZWke2phc_EGXtndt-E7GQSLLWCpooK42VOWs9w5ruXKNATdIRuVatlzLliB_ZAf8fBvalwbVDv61G4BkA3w1God_w-Ts8flutsn9BnjPjT4</recordid><startdate>201803</startdate><enddate>201803</enddate><creator>Alrakaf, Laila</creator><creator>Al‐Owain, Mohammed A.</creator><creator>Busehail, Maryam</creator><creator>Alotaibi, Maha A.</creator><creator>Monies, Dorota</creator><creator>Aldhalaan, Hesham M.</creator><creator>Alhashem, Amal</creator><creator>Al‐Hassnan, Zuhair N.</creator><creator>Rahbeeni, Zuhair A.</creator><creator>Murshedi, Fathiya Al</creator><creator>Ani, Nadia Al</creator><creator>Al‐Maawali, Almundher</creator><creator>Ibrahim, Niema A.</creator><creator>Abdulwahab, Firdous M.</creator><creator>Alsagob, Maysoon</creator><creator>Hashem, Mais O.</creator><creator>Ramadan, Wafaa</creator><creator>Abouelhoda, Mohamed</creator><creator>Meyer, Brian F.</creator><creator>Kaya, Namik</creator><creator>Maddirevula, Sateesh</creator><creator>Alkuraya, Fowzan S.</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-4158-341X</orcidid></search><sort><creationdate>201803</creationdate><title>Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities</title><author>Alrakaf, Laila ; Al‐Owain, Mohammed A. ; Busehail, Maryam ; Alotaibi, Maha A. ; Monies, Dorota ; Aldhalaan, Hesham M. ; Alhashem, Amal ; Al‐Hassnan, Zuhair N. ; Rahbeeni, Zuhair A. ; Murshedi, Fathiya Al ; Ani, Nadia Al ; Al‐Maawali, Almundher ; Ibrahim, Niema A. ; Abdulwahab, Firdous M. ; Alsagob, Maysoon ; Hashem, Mais O. ; Ramadan, Wafaa ; Abouelhoda, Mohamed ; Meyer, Brian F. ; Kaya, Namik ; Maddirevula, Sateesh ; Alkuraya, Fowzan S.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3645-a74e57d9ca340da4b186da1cb6f3fadbd4ea57de7dda9b15f3e893a61d0bfadf3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Agenesis of Corpus Callosum - diagnosis</topic><topic>Agenesis of Corpus Callosum - epidemiology</topic><topic>Agenesis of Corpus Callosum - genetics</topic><topic>Alleles</topic><topic>C12orf57</topic><topic>Coloboma - diagnosis</topic><topic>Coloboma - epidemiology</topic><topic>Coloboma - genetics</topic><topic>colobomav</topic><topic>Coronary artery disease</topic><topic>Corpus callosum</topic><topic>Craniofacial Abnormalities - diagnosis</topic><topic>Craniofacial Abnormalities - epidemiology</topic><topic>Craniofacial Abnormalities - genetics</topic><topic>Epilepsy</topic><topic>Etiology</topic><topic>Eye Abnormalities - diagnosis</topic><topic>Eye Abnormalities - genetics</topic><topic>Facies</topic><topic>Genetic Association Studies</topic><topic>Genetic Predisposition to Disease</topic><topic>global developmental delay</topic><topic>Heart diseases</topic><topic>Humans</topic><topic>Intellectual disabilities</topic><topic>Magnetic Resonance Imaging</topic><topic>Microphthalmia</topic><topic>Mutation</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Prevalence</topic><topic>Substantia alba</topic><topic>Temtamy syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Alrakaf, Laila</creatorcontrib><creatorcontrib>Al‐Owain, Mohammed A.</creatorcontrib><creatorcontrib>Busehail, Maryam</creatorcontrib><creatorcontrib>Alotaibi, Maha A.</creatorcontrib><creatorcontrib>Monies, Dorota</creatorcontrib><creatorcontrib>Aldhalaan, Hesham M.</creatorcontrib><creatorcontrib>Alhashem, Amal</creatorcontrib><creatorcontrib>Al‐Hassnan, Zuhair N.</creatorcontrib><creatorcontrib>Rahbeeni, Zuhair A.</creatorcontrib><creatorcontrib>Murshedi, Fathiya Al</creatorcontrib><creatorcontrib>Ani, Nadia Al</creatorcontrib><creatorcontrib>Al‐Maawali, Almundher</creatorcontrib><creatorcontrib>Ibrahim, Niema A.</creatorcontrib><creatorcontrib>Abdulwahab, Firdous M.</creatorcontrib><creatorcontrib>Alsagob, Maysoon</creatorcontrib><creatorcontrib>Hashem, Mais O.</creatorcontrib><creatorcontrib>Ramadan, Wafaa</creatorcontrib><creatorcontrib>Abouelhoda, Mohamed</creatorcontrib><creatorcontrib>Meyer, Brian F.</creatorcontrib><creatorcontrib>Kaya, Namik</creatorcontrib><creatorcontrib>Maddirevula, Sateesh</creatorcontrib><creatorcontrib>Alkuraya, Fowzan S.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Alrakaf, Laila</au><au>Al‐Owain, Mohammed A.</au><au>Busehail, Maryam</au><au>Alotaibi, Maha A.</au><au>Monies, Dorota</au><au>Aldhalaan, Hesham M.</au><au>Alhashem, Amal</au><au>Al‐Hassnan, Zuhair N.</au><au>Rahbeeni, Zuhair A.</au><au>Murshedi, Fathiya Al</au><au>Ani, Nadia Al</au><au>Al‐Maawali, Almundher</au><au>Ibrahim, Niema A.</au><au>Abdulwahab, Firdous M.</au><au>Alsagob, Maysoon</au><au>Hashem, Mais O.</au><au>Ramadan, Wafaa</au><au>Abouelhoda, Mohamed</au><au>Meyer, Brian F.</au><au>Kaya, Namik</au><au>Maddirevula, Sateesh</au><au>Alkuraya, Fowzan S.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2018-03</date><risdate>2018</risdate><volume>176</volume><issue>3</issue><spage>715</spage><epage>721</epage><pages>715-721</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>Temtamy syndrome is a syndromic form of intellectual disability characterized by ocular involvement, epilepsy and dysgenesis of the corpus callosum. After we initially mapped the disease to C12orf57, we noted a high carrier frequency of an ancient startloss founder mutation [c.1A>G; p.M1?] in our population, and variable phenotypic expressivity in newly identified cases. This study aims to combine 33 previously published patients with 23 who are described here for the first time to further delineate the phenotype of this syndrome. In addition to the known p.M1? founder, we describe four novel homozygous variants, thus increasing the number of Temtamy syndrome‐related C12orf57 variants to seven, all but one predicted to be loss of function. While all patients presented with intellectual disability/developmental delay, the frequency of other phenotypic features was variable: 73.2% (41/56) had epilepsy, 63% (34/54) had corpus callosal abnormalities, 14.5% (8/55) had coloboma, and 16.4% (9/55) had microphthalmia. Our analysis also revealed a high frequency of less recognized features such as congenital heart disease (51.4%), and brain white matter abnormalities (38%, 19/50). We conclude that C12orf57 variants should be considered in the etiology of developmental delay/intellectual disability, even when typical syndromic features are lacking, especially in those who trace their ancestry to Saudi Arabia where a founder C12orf57 mutation is among the most common recessive causes of intellectual disability.</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>29383837</pmid><doi>10.1002/ajmg.a.38615</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0003-4158-341X</orcidid></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1552-4825 |
| ispartof | American journal of medical genetics. Part A, 2018-03, Vol.176 (3), p.715-721 |
| issn | 1552-4825 1552-4833 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1993016899 |
| source | Wiley |
| subjects | Agenesis of Corpus Callosum - diagnosis Agenesis of Corpus Callosum - epidemiology Agenesis of Corpus Callosum - genetics Alleles C12orf57 Coloboma - diagnosis Coloboma - epidemiology Coloboma - genetics colobomav Coronary artery disease Corpus callosum Craniofacial Abnormalities - diagnosis Craniofacial Abnormalities - epidemiology Craniofacial Abnormalities - genetics Epilepsy Etiology Eye Abnormalities - diagnosis Eye Abnormalities - genetics Facies Genetic Association Studies Genetic Predisposition to Disease global developmental delay Heart diseases Humans Intellectual disabilities Magnetic Resonance Imaging Microphthalmia Mutation Phenotype Phenotypes Prevalence Substantia alba Temtamy syndrome |
| title | Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-11-13T07%3A45%3A22IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Further%20delineation%20of%20Temtamy%20syndrome%20of%20corpus%20callosum%20and%20ocular%20abnormalities&rft.jtitle=American%20journal%20of%20medical%20genetics.%20Part%20A&rft.au=Alrakaf,%20Laila&rft.date=2018-03&rft.volume=176&rft.issue=3&rft.spage=715&rft.epage=721&rft.pages=715-721&rft.issn=1552-4825&rft.eissn=1552-4833&rft_id=info:doi/10.1002/ajmg.a.38615&rft_dat=%3Cproquest_cross%3E2002171650%3C/proquest_cross%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c3645-a74e57d9ca340da4b186da1cb6f3fadbd4ea57de7dda9b15f3e893a61d0bfadf3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=2002171650&rft_id=info:pmid/29383837&rfr_iscdi=true |