Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)- B4GALT7 and Spondylodysplastic-EDS- B3GALT6

Variations in genes encoding for the enzymes responsible for synthesizing the linker region of proteoglycans may result in recessive conditions known as "linkeropathies". The two phenotypes related to mutations in genes and (encoding for galactosyltransferase I and II respectively) are sim...

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Bibliographic Details

Published in:	Genes 2019-10, Vol.10 (10), p.799
Main Authors:	Caraffi, Stefano Giuseppe, Maini, Ilenia, Ivanovski, Ivan, Pollazzon, Marzia, Giangiobbe, Sara, Valli, Maurizia, Rossi, Antonio, Sassi, Silvia, Faccioli, Silvia, Rocco, Maja Di, Magnani, Cinzia, Campos-Xavier, Belinda, Unger, Sheila, Superti-Furga, Andrea, Garavelli, Livia
Format:	Article
Language:	eng
Subjects:	beta-1,3-galactosyltransferase 6 (b3galt6) beta-1,4-galactosyltransferase 7 (b4galt7) Bone dysplasia Cell growth Cells, Cultured Child Child, Preschool Children Connective tissue Connective tissues doughy skin on the hands and feet Dysplasia Ehlers-Danlos syndrome Ehlers-Danlos Syndrome - diagnosis Ehlers-Danlos Syndrome - genetics Ehlers-Danlos Syndrome - pathology ehlers–danlos syndrome (eds) extreme laxity of distal joints Galactosyltransferases - genetics Genotype & phenotype Heparan sulfate Humans Joint Instability - genetics Male Muscle Hypotonia - genetics Mutation Neonates Osteochondrodysplasias - genetics Patients Phenotype Phenotypes Proteins Proteoglycans semdjl-beighton type Skeleton Skin Sodium soft speds-b3galt6 speds-b4galt7 spondylodysplastic ehlers–danlos syndrome (speds) spondyloepimetaphyseal dysplasia with joint laxity (semdjl1
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