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.

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第一作者： Yuhua,Pan

第一单位： School of Stomatology, Nanfang Hospital, Southern Medical University, Guangzhou, China.

作者： Yuhua,Pan ^[1] ; Xiaoling,Guo ^[2] ; Xiaoqiang,Zhou ^[2] ; Yue,Liu ^[2] ; Jingli,Lian ^[2] ; Tingting,Yang ^[2] ; Xiang,Huang ^[2] ; Fei,He ^[3] ; Jian,Zhang ^[3] ; Buling,Wu ^[1] ; Fu,Xiong ^[3] ; Xingkun,Yang ^[4]

作者单位： School of Stomatology, Nanfang Hospital, Southern Medical University, Guangzhou, China. ^[1] Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, Guangzhou, China. ^[2] Department of Medical Genetics, Experimental Education, Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China. ^[3] Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou, China. ^[4] Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou, China. ^[5]

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

DOI 10.3389/fped.2021.775488

PMID 34869127

发布时间 2021-12-07

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Frontiers in pediatrics

2021年9卷

775488页

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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.

Frontiers in pediatrics

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Frontiers in pediatrics

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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.

Frontiers in pediatrics

相似文献

Frontiers in pediatrics

相关期刊

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