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Article

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.

Human genetics - 1 Dec 2009

Gestri Gaia, Osborne Robert J, Wyatt Alexander W, Gerrelli Dianne, Gribble Susan, Stewart Helen, Fryer Alan, Bunyan David J, Prescott Katrina, Collin J Richard O, Fitzgerald Tomas, Robinson David, Carter Nigel P, Wilson Stephen W, Ragge Nicola K

Abstract excerpt

Mutations in the transcription factor encoding TFAP2A gene underlie branchio-oculo-facial syndrome (BOFS), a rare dominant disorder characterized by distinctive craniofacial, ocular, ectodermal and renal anomalies. To elucidate the range of ocular phenotypes caused by mutations in TFAP2A, we took...

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Identifiers

PMID: 19685247
DOI: 10.1007/s00439-009-0730-x
PMCID: PMC3083835

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19685247-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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