Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-
Ehlers–Danlos syndrome (EDS)
SEMDJL-Beighton type)
beta-1,3-galactosyltransferase 6 (B3GALT6)
beta-1,4-galactosyltransferase 7 (B4GALT7)
doughy skin on the hands and feet
extreme laxity of distal joints
soft
spEDS-B3GALT6
spEDS-B4GALT7
spondylodysplastic Ehlers–Danlos syndrome (spEDS)
spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL1
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
12 10 2019
12 10 2019
Historique:
received:
30
08
2019
revised:
25
09
2019
accepted:
11
10
2019
entrez:
17
10
2019
pubmed:
17
10
2019
medline:
27
2
2020
Statut:
epublish
Résumé
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
Identifiants
pubmed: 31614862
pii: genes10100799
doi: 10.3390/genes10100799
pmc: PMC6826576
pii:
doi:
Substances chimiques
B3GALT6 protein, human
EC 2.4.1.-
Galactosyltransferases
EC 2.4.1.-
xylosylprotein 4-beta-galactosyltransferase
EC 2.4.1.133
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Déclaration de conflit d'intérêts
All authors declare that there are no conflicts of interest concerning this work.
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