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Article

Homozygosity mapping in an anophthalmic pedigree provides evidence of additional genetic heterogeneity.

Ophthalmic genetics - 1 Dec 2012

Khorshidi Azam, Russell Laurie, Bamforth Steven, Drummond Garry, Johnson Royce, Lehmann Ordan J

Abstract excerpt

PURPOSE: Anophthalmia is a heterogeneous developmental disorder characterized by absent eyes whose diverse etiology encompasses chromosomal and monogenic aberrations, as well as environmental causes. Since the molecular basis has been defined in only a small proportion of cases and extending this...

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Source

Identifiers

PMID: 22273394
DOI: 10.3109/13816810.2011.648364

Genes

CIC
FGF2
PRDM5
SOS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22273394-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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