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Clinical and genetic analysis in Chinese children with Alagille syndrome

BACKGROUND: Alagille syndrome (ALGS) is a multisystem disorder with variable clinical penetrance. The genes responsible for this disease are JAGGED1 (JAG1) and NOTCH2. Clinical data of this disease are limited in China. The purpose of this study was to enrich the present data of Chinese children wit...

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Detalles Bibliográficos
Autores principales: Chen, Ying, Sun, Mei, Teng, Xu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9706830/
https://www.ncbi.nlm.nih.gov/pubmed/36447191
http://dx.doi.org/10.1186/s12887-022-03750-z