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Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome

✍ Scribed by Plancke, Aurélie; Holder-Espinasse, Muriel; Rigau, Valérie; Manouvrier, Sylvie; Claustres, Mireille; Van Kien, Philippe Khau

Book ID
109849172
Publisher
Nature Publishing Group
Year
2009
Tongue
English
Weight
290 KB
Volume
17
Category
Article
ISSN
1018-4813

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Ehlers-Danlos syndrome type IV: cosegreg
Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen
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Ehlers-Danlos syndrome (EDS) type IV is a rare and catastrophic genetic disorder of the connective tissue. Individuals from two families with this disorder were studied for a restriction fragment length polymorphism (RFLP) associated with the COL3A1 gene. Our results suggested cosegregation of the E

Exclusion of COL1A1, COL1A2, and COL3A1
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Ehlers-Danlos syndrome (EDS) type I is a generalized connective tissue disorder, the major manifestations of which are soft, velvety hyperextensible skin and moderately severe joint hypermobility. The gene defect or defects causing EDS type I have not yet been defined, but previous observations sugg