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Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation

Mutations in hepatocyte nuclear factor-1 beta (HNF1B) are the most commonly identified genetic cause of renal malformations. Heterozygous mutations are associated with renal cysts and diabetes syndrome. Various renal developmental abnormalities and maturity-onset diabetes of the young could be the p...

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Detalles Bibliográficos
Autores principales: GOKNAR, Nilufer, EKICI AVCI, Melda, UCKARDES, Diana, KELESOGLU, Emre, TEKKUS ERMIS, Kubra, CANDAN, Cengiz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8694168/
https://www.ncbi.nlm.nih.gov/pubmed/34939403
http://dx.doi.org/10.4274/MMJ.galenos.2021.02686