A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report

Background: Branchio-oculo-facial syndrome (BOFS) is a rare congenital developmental disorder with highly variable clinical phenotypes in autosomal dominant inheritance. The aim of this study is to identify disease-causing mutations in a Chinese family with predominant coloboma of choroid. Case repo...

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Detalles Bibliográficos
Autores principales: Min, Jie, Mao, Bing, Wang, Yong, He, Xuelian, Gao, Shuyang, Wang, Hairong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7379893/
https://www.ncbi.nlm.nih.gov/pubmed/32766183
http://dx.doi.org/10.3389/fped.2020.00380

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7379893/
https://www.ncbi.nlm.nih.gov/pubmed/32766183
http://dx.doi.org/10.3389/fped.2020.00380

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