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Article

Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.

American journal of human genetics - 1 May 2008

Abu Almogit, Frydman Moshe, Marek Dina, Pras Eran, Nir Uri, Reznik-Wolf Haike, Pras Elon

Abstract excerpt

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-tissue disorders. Previously, we assigned the disease gene to a 4.7 Mb interval on chromosome 16q24. In order to...

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Identifiers

PMID: 18452888
DOI: 10.1016/j.ajhg.2008.04.001
PMCID: PMC2427192

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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