A Novel Variant of the <i>CHD2</i> Gene Associated With Developmental Delay and Myoclonic Epilepsy.

Zhu, Lina; Peng, Fujun; Deng, Zengwen; Feng, Zhichun; Ma, Xiuwei

A Novel Variant of the CHD2 Gene Associated With Developmental Delay and Myoclonic Epilepsy.

Zhu, Lina; Peng, Fujun; Deng, Zengwen; Feng, Zhichun; Ma, Xiuwei.

Afiliação

Zhu L; Faculty of Pediatrics, Chinese PLA General Hospital, BaYi Children's Hospital, The Seventh Medical Center of PLA General Hospital, Beijing, China.
Peng F; School of Basic Medical Sciences, Weifang Medical University, Weifang, China.
Deng Z; Hospital of Jvlu County, Xingtai, China.
Feng Z; Faculty of Pediatrics, Chinese PLA General Hospital, BaYi Children's Hospital, The Seventh Medical Center of PLA General Hospital, Beijing, China.
Ma X; Faculty of Pediatrics, Chinese PLA General Hospital, BaYi Children's Hospital, The Seventh Medical Center of PLA General Hospital, Beijing, China.

Front Genet ; 13: 761178, 2022.

Article em En | MEDLINE | ID: mdl-35222528

Palavras-chave

CHD2 variants; developmental delay; epileptic encephalopathy; myoclonic epilepsy; whole-exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China

Texto completo

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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China