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

Min, Jie; Mao, Bing; Wang, Yong; He, Xuelian; Gao, Shuyang; Wang, Hairong

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

Min, Jie; Mao, Bing; Wang, Yong; He, Xuelian; Gao, Shuyang; Wang, Hairong.

Afiliação

Min J; Department of Obstetrics and Gynecology, Wuhan Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Mao B; Department of Neurology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Wang Y; Wuhan Aier Eye Hospital, Aier School of Ophthalmology, Central South University, Wuhan, China.
He X; Department of Obstetrics and Gynecology, Wuhan Medical and Health Center for Women and Children, Wuhan, China.
Gao S; BGI Genomics, BGI-Shenzhen, Shenzhen, China.
Wang H; BGI-Wuhan Clinical Laboratories, BGI-Shenzhen, Wuhan, China.

Front Pediatr ; 8: 380, 2020.

Article em En | MEDLINE | ID: mdl-32766183

Palavras-chave

TFAP2A gene; branchio-oculo-facial syndrome; coloboma of choroid; genotype-phenotype; next-generation sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Prognostic_studies Idioma: En Revista: Front Pediatr Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China

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