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Article

Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.

PLoS genetics - 1 Jan 2015

Deml Brett, Kariminejad Ariana, Borujerdi Razieh H R, Muheisen Sanaa, Reis Linda M, Semina Elena V

Abstract excerpt

Ocular coloboma results from abnormal embryonic development and is often associated with additional ocular and systemic features. Coloboma is a highly heterogeneous disorder with many cases remaining unexplained. Whole exome sequencing from two cousins affected with dominant coloboma with microcornea, cataracts, and skeletal dysplasia identified a novel heterozygous allele in MAB21L2, c.151 C>G, p.(Arg51Gly); the...

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Identifiers

PMID: 25719200
DOI: 10.1371/journal.pgen.1005002
PMCID: PMC4342166

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.PMID 25719200Read ↗

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