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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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| Autori principali: | , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2008
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| Soggetti: | |
| Accesso online: | 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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