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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...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2006
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| Assuntos: | |
| Acesso em linha: | 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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