Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome.

Li, Qun; Chang, Guoying; Yin, Lei; Li, Juan; Huang, Xiaodong; Shen, Yongnian; Li, Guoqiang; Xu, Yufei; Wang, Jian; Wang, Xiumin

Li, Qun; Chang, Guoying; Yin, Lei; Li, Juan; Huang, Xiaodong; Shen, Yongnian; Li, Guoqiang; Xu, Yufei; Wang, Jian; Wang, Xiumin.

Afiliação

Li Q; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, China.
Chang G; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, China.
Yin L; Department of Rare Disease Clinic, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Li J; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, China.
Huang X; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, China.
Shen Y; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, China.
Li G; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Xu Y; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Wang J; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China. labwangjian@shsmu.edu.cn.
Wang X; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, China. wangxiumin1019@126.com.

Sci Rep ; 10(1): 21224, 2020 12 04.

Article em En | MEDLINE | ID: mdl-33277604

Assuntos

Proteínas de Ciclo Celular/genética; Síndrome de Cornélia de Lange/genética; Síndrome de Cornélia de Lange/fisiopatologia; Anormalidades Múltiplas; Povo Asiático; Criança; Pré-Escolar; Proteínas Cromossômicas não Histona/genética; Estudos de Coortes; Proteínas de Ligação a DNA/genética; Síndrome de Cornélia de Lange/metabolismo; Feminino; Mutação da Fase de Leitura; Genótipo; Heterozigoto; Sequenciamento de Nucleotídeos em Larga Escala; Histona Desacetilases/genética; Homozigoto; Humanos; Lactente; Masculino; Mutação de Sentido Incorreto; Fenótipo; Splicing de RNA; Proteínas Repressoras/genética; Estudos Retrospectivos; Deleção de Sequência

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ciclo Celular / Síndrome de Cornélia de Lange Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Sci Rep Ano de publicação: 2020 Tipo de documento: Article

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