A case report of NPHP1 deletion in Chinese twins with nephronophthisis

BACKGROUND: Nephronophthisis (NPHP) is a rare autosomal recessive inherited disorder with high heterogeneity. The majority of NPHP patients progress to end-stage renal disease (ESRD) within the first three decades of life. As an inherited disorder with highly genetic heterogeneity and clinical prese...

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Detalles Bibliográficos
Autores principales: Chen, Feng, Dai, Limeng, Zhang, Jun, Li, Furong, Cheng, Jinbo, Zhao, Jinghong, Zhang, Bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168837/
https://www.ncbi.nlm.nih.gov/pubmed/32306954
http://dx.doi.org/10.1186/s12881-020-01025-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168837/
https://www.ncbi.nlm.nih.gov/pubmed/32306954
http://dx.doi.org/10.1186/s12881-020-01025-x

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