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Nephronophthisis: A review of genotype–phenotype correlation

Nephronophthisis is an autosomal recessive cystic kidney disease and one of the most common genetic disorders causing end‐stage renal disease in children. Nephronophthisis is a genetically heterogenous disorder with more than 25 identified genes. In 10%–20% of cases, there are additional features of...

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Detalles Bibliográficos
Autores principales: Luo, Fenglan, Tao, Yu‐Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons Australia, Ltd 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175366/
https://www.ncbi.nlm.nih.gov/pubmed/29717526
http://dx.doi.org/10.1111/nep.13393