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[Branchio-oculo-facial syndrome].

Annales de dermatologie et de venereologie - 1 Jan 2000

Frascari F, Bieth E, Galinier P, Just W, Mazereeuw-Hautier J

Abstract excerpt

BACKGROUND: Branchio-Oculo-Facial Syndrome (BOFS, MIM#113620) is a rare, polymalformational disorder with cutaneous and ocular abnormalities and characteristic facial anomalies. It is an autosomal dominant developmental disorder caused by mutations or deletions in the transcription factor AP-2 alpha gene (TFAP2A, 6p24). We report a new case of atypical BOFS with a unilateral cervical cutaneous defect. PATIENT AND...

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PMID: 22963965
DOI: 10.1016/j.annder.2012.05.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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