Novel homozygous ALX4 mutation causing frontonasal dysplasia-2 in a patient with meningoencephalocele

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Bibliographic Details
Published in:Clinical genetics 2015-12, Vol.88 (6), p.593-596
Main Authors: Meloni, V.A., Moysés-Oliveira, M., Melo, M.C.C., Caneloi, T.P., Dantas, A.G., Soares, M.F.F., Fock, R., Rodrigues de Nicola, P.D., Dias-da-Silva, M.R., Melaragno, M.I.
Format: Article
Language:English
Subjects:
Base Sequence
Craniofacial Abnormalities - complications
Craniofacial Abnormalities - genetics
DNA-Binding Proteins - genetics
Encephalocele - complications
Face - abnormalities
Genetic Predisposition to Disease - genetics
Homozygote
Humans
Infant
Male
Meningocele - complications
Molecular Sequence Data
Mutation
Sequence Analysis, DNA
Sequence Homology, Nucleic Acid
Transcription Factors - genetics
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ISSN:0009-9163
1399-0004
DOI:10.1111/cge.12595