Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

Brittle cornea syndrome (BCS) is an autosomal-recessive disorder characterized by a thin cornea that tends to perforate, causing progressive visual loss and blindness. Additional systemic symptoms such as joint hypermotility, hyperlaxity of the skin, and kyphoscoliosis place BCS among the connective...

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Détails bibliographiques
Auteurs principaux: Abu, Almogit, Frydman, Moshe, Marek, Dina, Pras, Eran, Nir, Uri, Reznik-Wolf, Haike, Pras, Elon
Format: Artigo
Langue:Inglês
Publié: Elsevier 2008
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427192/
https://ncbi.nlm.nih.gov/pubmed/18452888
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.04.001
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