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

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...

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Detalles Bibliográficos
Autores principales: Luo, Fangmei, Lu, Meiling, Zhao, Lu, Zhou, Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10627626/
https://www.ncbi.nlm.nih.gov/pubmed/37932997
http://dx.doi.org/10.1097/MD.0000000000034962

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10627626/
https://www.ncbi.nlm.nih.gov/pubmed/37932997
http://dx.doi.org/10.1097/MD.0000000000034962

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