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Article

Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2014

Günes N, Cengiz F B, Duman D, Dervişoğlu S, Tekin M, Tüysüz B

Abstract excerpt

We present an 18-day old boy with bilateral cervical cutaneous defect in the retroauricular region, low-set and posteriorly rotated ears, bilateral microphtalmia and bilateral pseudocleft of the upper lip. Histopathological evaluation of cervical cutaneous defect showed ulceration on the surface and ectopic thymus tissue in the deep dermis with cortex, medulla and Hassal's corpuscles. Clinical findings led to the...

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PMID: 24783654

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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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Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation.PMID 24783654Read ↗

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TFAP2A mutations result in branchio-oculo-facial syndrome.Semantic proximity Read ↗

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

A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.Semantic proximity Read ↗

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