Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients.

Li, Zhong-Die; Abuduxikuer, Kuerbanjiang; Wang, Li; Hao, Chen-Zhi; Zhang, Jing; Wang, Meng-Xuan; Li, Li-Ting; Qiu, Yi-Ling; Xie, Xin-Bao; Lu, Yi; Wang, Jian-She

Li, Zhong-Die; Abuduxikuer, Kuerbanjiang; Wang, Li; Hao, Chen-Zhi; Zhang, Jing; Wang, Meng-Xuan; Li, Li-Ting; Qiu, Yi-Ling; Xie, Xin-Bao; Lu, Yi; Wang, Jian-She.

Afiliação

Li ZD; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
Abuduxikuer K; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
Wang L; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
Hao CZ; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
Zhang J; Department of Pediatrics, Jinshan Hospital, Fudan University, Shanghai, China.
Wang MX; Department of Pediatrics, Jinshan Hospital, Fudan University, Shanghai, China.
Li LT; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
Qiu YL; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
Xie XB; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
Lu Y; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
Wang JS; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.

Liver Int ; 42(8): 1836-1848, 2022 08.

Article em En | MEDLINE | ID: mdl-35567760

Assuntos

Síndrome de Alagille; Receptor Notch2; Síndrome de Alagille/diagnóstico; Síndrome de Alagille/genética; Humanos; Proteína Jagged-1/genética; Proteína Jagged-1/metabolismo; Mutação; Fenótipo; Receptor Notch2/genética; Receptor Notch2/metabolismo; Virulência

Palavras-chave

NOTCH2; Alagille syndrome; rare variants; the interpretation of sequencing variants

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Alagille / Receptor Notch2 Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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