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Article

Mutation of SALL2 causes recessive ocular coloboma in humans and mice.

Human molecular genetics - 15 May 2014

Kelberman Daniel, Islam Lily, Lakowski Jörn, Bacchelli Chiara, Chanudet Estelle, Lescai Francesco, Patel Aara, Stupka Elia, Buck Anja, Wolf Stephan, Beales Philip L, Jacques Thomas S, Bitner-Glindzicz Maria, Liasis Alki, Lehmann Ordan J, Kohlhase Jürgen, Nischal Ken K, Sowden Jane C

Abstract excerpt

Ocular coloboma is a congenital defect resulting from failure of normal closure of the optic fissure during embryonic eye development. This birth defect causes childhood blindness worldwide, yet the genetic etiology is poorly understood. Here, we identified a novel homozygous mutation in the SALL...

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Source

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Identifiers

PMID: 24412933
DOI: 10.1093/hmg/ddt643
PMCID: PMC3990155

Genes

SALL2
PAX2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24412933-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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