Renal-hepatic-pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature

• Main Authors: Hui Zhu (Author), Zhi-hui Zhao (Author), Shu-yao Zhu (Author), Fu Xiong (Author), Li-hong He (Author), Yong Zhang (Author), Jin Wang (Author)
• Format: Book
• Published: BMC, 2022-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Renal-hepatic-pancreatic dysplasia type 1 (RHPD1) is a rare sporadic and autosomal recessive disorder with unknown incidence. RHPD1 is caused by biallelic pathogenic variants in NPHP3, which encode nephrocystin, an important component of the ciliary protein complex. Case presenta...