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Article

A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.

American journal of medical genetics. Part A - 1 Mar 2009

Tekin Mustafa, Sirmaci Asli, Yüksel-Konuk Berrin, Fitoz Suat, Sennaroğlu Levent

Abstract excerpt

We present a 4-year-old girl with congenital profound sensorineural deafness associated with inner ear malformation (incomplete partition type II, enlarged vestibule, and enlarged vestibular aqueduct). The proposita also had pseudocleft lips, skin defects, auricle abnormalities, and unilateral multicystic dysplastic kidney, leading to the diagnosis of branchio-oculo-facial (BOF) syndrome. Mutation analysis of the...

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Source

Identifiers

PMID: 19206157
DOI: 10.1002/ajmg.a.32619

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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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A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.PMID 19206157Read ↗

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TFAP2A Mutations Result in Branchio-Oculo-Facial SyndromeSemantic proximity Read ↗

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Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.Semantic proximity Read ↗

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