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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...
Autores principales: | GOKNAR, Nilufer, EKICI AVCI, Melda, UCKARDES, Diana, KELESOGLU, Emre, TEKKUS ERMIS, Kubra, CANDAN, Cengiz |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2021
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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 |
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