A Novel Mutation of the HNF1B Gene Associated With Hypoplastic Glomerulocystic Kidney Disease and Neonatal Renal Failure: A Case Report and Mutation Update

Hepatocyte nuclear factor 1 beta (HNF1B) plays an important role in embryonic development, namely in the kidney, pancreas, liver, genital tract, and gut. Heterozygous germline mutations of HNF1B are associated with the renal cysts and diabetes syndrome (RCAD). Affected individuals may present a vari...

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Detalles Bibliográficos
Autores principales: Alvelos, Maria Inês, Rodrigues, Magda, Lobo, Luísa, Medeira, Ana, Sousa, Ana Berta, Simão, Carla, Lemos, Manuel Carlos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2015
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4554182/
https://www.ncbi.nlm.nih.gov/pubmed/25700310
http://dx.doi.org/10.1097/MD.0000000000000469

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4554182/
https://www.ncbi.nlm.nih.gov/pubmed/25700310
http://dx.doi.org/10.1097/MD.0000000000000469

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