Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome

Biliary atresia (BA) is the most common cause of end-stage liver disease in children and the primary indication for pediatric liver transplantation, yet underlying etiologies remain unknown. Approximately 10% of infants affected by BA exhibit various laterality defects (heterotaxy) including splenic...

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Detalhes bibliográficos
Publicado no:Hepatology
Main Authors: Berauer, John-Paul, Mezina, Anya I., Okou, David T., Sabo, Aniko, Muzny, Donna M., Gibbs, Richard A., Hegde, Madhuri R., Chopra, Pankaj, Cutler, David J., Perlmutter, David H., Bull, Laura N., Thompson, Richard J., Loomes, Kathleen M., Spinner, Nancy B., Rajagopalan, Ramakrishnan, Guthery, Stephen L., Moore, Barry, Yandell, Mark, Harpavat, Sanjiv, Magee, John C., Kamath, Binita M., Molleston, Jean P., Bezerra, Jorge A., Murray, Karen F., Alonso, Estella M., Rosenthal, Philip, Squires, Robert H., Wang, Kasper S., Finegold, Milton J., Russo, Pierre, Sherker, Averell H., Sokol, Ronald J., Karpen, Saul J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6642859/
https://ncbi.nlm.nih.gov/pubmed/30664273
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/hep.30515
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