Genotype and Phenotype Analyses in Pediatric Patients with HNF1B Mutations

HNF1B mutations, one of the most common causes of congenital anomalies of the kidney and urinary tract, manifest as various renal and extrarenal phenotypes. We analyzed the genotype-phenotype correlations in 14 pediatric patients with HNF1B mutations. Genetic studies revealed total gene deletion in...

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Detalles Bibliográficos
Autores principales: Lim, Seon Hee, Kim, Ji Hyun, Han, Kyoung Hee, Ahn, Yo Han, Kang, Hee Gyung, Ha, Il-Soo, Cheong, Hae Il
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408390/
https://www.ncbi.nlm.nih.gov/pubmed/32708349
http://dx.doi.org/10.3390/jcm9072320

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408390/
https://www.ncbi.nlm.nih.gov/pubmed/32708349
http://dx.doi.org/10.3390/jcm9072320

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