Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene.
Jansen
T
T
Paepe
A D
AD
Nuytinck
L
L
Altmeyer
P
P
D000328:Adult; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D010641:Phenotype; D011347:Procollagen / Q000235:genetics*
D011347:Procollagen