Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the <i>NSD1</i> Gene and Literature Analysis in the Chinese Han Population.

Jin, Hui-Ying; Li, Hai-Feng; Xu, Jia-Lu; Hui, Wang; Ruan, Wen-Cong; Lv, Cheng-Cheng; Xu, Ren-Ai; Qiang, Shu

Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the NSD1 Gene and Literature Analysis in the Chinese Han Population.

Jin, Hui-Ying; Li, Hai-Feng; Xu, Jia-Lu; Hui, Wang; Ruan, Wen-Cong; Lv, Cheng-Cheng; Xu, Ren-Ai; Qiang, Shu.

Afiliação

Jin HY; Department of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
Li HF; Department of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
Xu JL; Department of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
Hui W; Department of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
Ruan WC; Department of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
Lv CC; Department of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
Xu RA; Department of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
Qiang S; Department of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.

Medicina (Kaunas) ; 58(7)2022 Jul 21.

Article em En | MEDLINE | ID: mdl-35888687

Assuntos

Síndrome de Sotos; Histona Metiltransferases/genética; Histona-Lisina N-Metiltransferase/genética; Humanos; Peptídeos e Proteínas de Sinalização Intracelular/genética; Mutação; Mutação de Sentido Incorreto/genética; Proteínas Nucleares/química; Proteínas Nucleares/genética; Estudos Retrospectivos; Síndrome de Sotos/genética

Palavras-chave

NSD1; c.5000C>A; chr5:176687023; missense variation; neonatal Sotos syndrome

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Sotos Tipo de estudo: Observational_studies Limite: Humans Idioma: En Revista: Medicina (Kaunas) Assunto da revista: MEDICINA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China

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