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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Abu, Almogit, Frydman, Moshe, Marek, Dina, Pras, Eran, Nir, Uri, Reznik-Wolf, Haike, Pras, Elon
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2008
Pynciau:
Report
Mynediad Ar-lein: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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