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ocular coloboma
Friday 13 May 2005
Definition: Incomplete closure of the fissure of the embryonic optic cup, which mainly affects the iris.
Types:
iris coloboma
uveal coloboma
retinal coloboma
Etiology (Exemples)
germline mutations in
See also
ocular malformations
references
Asai-Coakwell M, French CR, Berry KM, Ye M, Koss R, Somerville M, Mueller R, van Heyningen V, Waskiewicz AJ, Lehmann OJ. GDF6, a novel locus for a spectrum of ocular developmental anomalies. Am J Hum Genet. 2007 Feb;80(2):306-15. PMID: 17236135
