A single heterozygous nonsense mutation in the TTC21B gene causes adult‐onset nephronophthisis 12: A case report and review of literature

BACKGROUND: Nephronophthisis type 12 (NPHP 12) is a rare cilia‐related cystic kidney disease, caused by TTC21B mutation, mainly involving the kidneys, which generally occurs in children. Our study aimed to illustrate its clinical, pathological and genetic characteristics by reporting an adult‐onset...

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Detalles Bibliográficos
Autores principales: Wang, Dan, Chen, Xionghui, Wen, Qiong, Li, Zhijian, Chen, Wei, Chen, Wenfang, Wang, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747551/
https://www.ncbi.nlm.nih.gov/pubmed/36263627
http://dx.doi.org/10.1002/mgg3.2076

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747551/
https://www.ncbi.nlm.nih.gov/pubmed/36263627
http://dx.doi.org/10.1002/mgg3.2076

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