Case Report: A Novel Compound Heterozygous Mutation of the <i>FRMD4A</i> Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia.

Pan, Yuhua; Guo, Xiaoling; Zhou, Xiaoqiang; Liu, Yue; Lian, Jingli; Yang, Tingting; Huang, Xiang; He, Fei; Zhang, Jian; Wu, Buling; Xiong, Fu; Yang, Xingkun

Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia.

Pan, Yuhua; Guo, Xiaoling; Zhou, Xiaoqiang; Liu, Yue; Lian, Jingli; Yang, Tingting; Huang, Xiang; He, Fei; Zhang, Jian; Wu, Buling; Xiong, Fu; Yang, Xingkun.

Afiliação

Pan Y; School of Stomatology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Guo X; Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, Guangzhou, China.
Zhou X; Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, Guangzhou, China.
Liu Y; Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, Guangzhou, China.
Lian J; Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, Guangzhou, China.
Yang T; Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, Guangzhou, China.
Huang X; Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, Guangzhou, China.
He F; Department of Medical Genetics, Experimental Education, Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
Zhang J; Department of Medical Genetics, Experimental Education, Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
Wu B; School of Stomatology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Xiong F; Department of Medical Genetics, Experimental Education, Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
Yang X; Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou, China.

Front Pediatr ; 9: 775488, 2021.

Article em En | MEDLINE | ID: mdl-34869127

Palavras-chave

FRMD4A; compound heterozygous missense mutations; corpus callosum anomaly; global developmental delay (GDD); intellectual disability

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Front Pediatr Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China País de publicação: Suíça

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