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...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-04-01
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Series: | BMC Medical Genetics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12881-020-01025-x |