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Article

A neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review.

Medicine - 3 Nov 2023

Luo Fangmei, Lu Meiling, Zhao Lu, Zhou Ping

Abstract excerpt

RATIONALE: Branchiooculofacial syndrome (BOFS) is a rare autosomal dominant disorder with a diverse clinical phenotype. To summarise the clinical characteristics and genetic variations of neonatal-onset BOFS through a case study and literature review. PATIENT CONCERNS: A preterm neonate with a very low birth weight, born at a gestational age of 29+3 weeks, exhibited cosmetic abnormalities at a postmenstrual age...

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Identifiers

PMID: 37932997
DOI: 10.1097/MD.0000000000034962
PMCID: PMC10627626

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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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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