Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients.

Qian, Yanyan; Zhou, Yuanfeng; Wu, Bingbing; Chen, Huiyao; Xu, Suzhen; Wang, Yao; Zhang, Ping; Li, Gang; Xu, Qiong; Zhou, Wenhao; Xu, Xiu; Wang, Huijun

Qian, Yanyan; Zhou, Yuanfeng; Wu, Bingbing; Chen, Huiyao; Xu, Suzhen; Wang, Yao; Zhang, Ping; Li, Gang; Xu, Qiong; Zhou, Wenhao; Xu, Xiu; Wang, Huijun.

Afiliação

Qian Y; Center of Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.
Zhou Y; Neurology Department, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Wu B; Center of Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.
Chen H; Center of Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.
Xu S; Center of Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.
Wang Y; Center of Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.
Zhang P; Center of Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.
Li G; Center of Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.
Xu Q; Department of Child Health Care, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.
Zhou W; Center of Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.
Xu X; Department of Child Health Care, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai, 201102, China. xuxiu@shmu.edu.cn.
Wang H; Center of Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai, 201102, China. huijunwang@fudan.edu.cn.

J Autism Dev Disord ; 52(11): 5033-5041, 2022 Nov.

Article em En | MEDLINE | ID: mdl-34813034

Assuntos

Transtorno do Espectro Autista; Transtorno Autístico; Deficiência Intelectual; Anormalidades Múltiplas; Transtorno Autístico/genética; China; Cromatina; DNA Helicases/genética; Face/anormalidades; Deformidades Congênitas da Mão; Humanos; Deficiência Intelectual/genética; Micrognatismo; Pescoço/anormalidades; Proteínas Nucleares/genética; Fatores de Transcrição/genética

Palavras-chave

Autism spectrum disorder; Coffin-Siris syndrome; Neurodevelopmental-related disorders; Phenotype; SMARCA4

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno Autístico / Transtorno do Espectro Autista / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: J Autism Dev Disord Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos

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