Medullary Cystic Kidney Disease and Focal Segmental Glomerulosclerosis Caused by a Compound Heterozygous Mutation in TTC21B

Mutations in the TTC21B gene have been identified in patients with nephronophthisis and were recently found in some patients with focal segmental glomerulosclerosis. We herein report a Japanese boy with end-stage renal disease due to medullary polycystic kidney disease and primary focal segmental gl...

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Dades bibliogràfiques
Publicat a:Intern Med
Autors principals: Hibino, Satoshi, Morisada, Naoya, Takeda, Asami, Tanaka, Kazuki, Nozu, Kandai, Yamakawa, Satoshi, Iijima, Kazumoto, Fujita, Naoya
Format: Artigo
Idioma:Inglês
Publicat: The Japanese Society of Internal Medicine 2020
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7434538/
https://ncbi.nlm.nih.gov/pubmed/32238723
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.4266-19
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