Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature

Weill-Marchesani syndrome (WMS) is a well-characterized disorder in which patients develop eye and skeletal abnormalities. Autosomal-recessive and autosomal-dominant forms of WMS are caused by mutations in ADAMTS10 and FBN1 genes, respectively. Here we report on 13 patients from seven unrelated fami...

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Detalhes bibliográficos
Principais autores: Morales, Jose, Al-Sharif, Latifa, Khalil, Dania S., Shinwari, Jameela M.A., Bavi, Prashant, Al-Mahrouqi, Rahima A., Al-Rajhi, Ali, Alkuraya, Fowzan S., Meyer, Brian F., Al Tassan, Nada
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2775842/
https://ncbi.nlm.nih.gov/pubmed/19836009
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.09.011
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