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Article

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.

American journal of human genetics - 7 Mar 2013

Zahrani Fatema, Aldahmesh Mohammed A, Alshammari Muneera J, Al-Hazzaa Selwa A F, Alkuraya Fowzan S

Abstract excerpt

Microphthalmia is an important developmental eye disorder. Although mutations in several genes have been linked to this condition, they only account for a minority of cases. We performed autozygome analysis and exome sequencing on a multiplex consanguineous family in which colobomatous microphtha...

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PMID: 23453665
DOI: 10.1016/j.ajhg.2013.01.008
PMCID: PMC3591839

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23453665-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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