Association of a novel PKHD1 mutation in a family with autosomal dominant polycystic liver disease

BACKGROUND: Autosomal dominant polycystic liver disease (ADPLD) is characterized by multiple cysts in the liver without (or only occasional) renal cysts. At least seven genes are associated with high risk for developing ADPLD; however, clear genetic involvement is undetermined in more than 50% of AD...

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Detalles Bibliográficos
Autores principales: Wang, Jiaru, Yang, Huayu, Guo, Ruohan, Sang, Xinting, Mao, Yilei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7867901/
https://www.ncbi.nlm.nih.gov/pubmed/33569422
http://dx.doi.org/10.21037/atm-20-3318

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