A case report of NPHP1 deletion in Chinese twins with nephronophthisis

A case report of NPHP1 deletion in Chinese twins with nephronophthisis

Abstract 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 clinic...

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Bibliographic Details
Main Authors: Feng Chen, Limeng Dai, Jun Zhang, Furong Li, Jinbo Cheng, Jinghong Zhao, Bo Zhang
Format: Article
Language:English
Published: BMC 2020-04-01
Series:BMC Medical Genetics
Subjects:
Nephronophthisis
NPHP1
Exome sequencing
Autosomal recessive
Full gene deletion
Online Access:http://link.springer.com/article/10.1186/s12881-020-01025-x

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http://link.springer.com/article/10.1186/s12881-020-01025-x

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