Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers‐Danlos syndrome with hypermobility and propensity to cardiac valvular problems

BACKGROUND: Heterozygous mutations in the COL1A1 or COL1A2 gene encoding the α1 and α2 chain of type I collagen generally cause either osteogenesis imperfecta or the arthrochalasis form of Ehlers‐Danlos syndrome (EDS). Homozygous or compound heterozygous COL1A2 mutations resulting in complete defici...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Malfait, F, Symoens, S, Coucke, P, Nunes, L, De Almeida, S, De Paepe, A
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Group 2006
Gaiak:
Electronic Letter
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564565/
https://ncbi.nlm.nih.gov/pubmed/16816023
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.038224
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