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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Publicado en:Hepatology
Autores principales: 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
Lenguaje:Inglês
Publicado: 2019
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Article
Acceso en línea: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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