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

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 PRESENTATION: In...

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Detalles Bibliográficos
Autores principales: Zhu, Hui, Zhao, Zhi-hui, Zhu, Shu-yao, Xiong, Fu, He, Li-hong, Zhang, Yong, Wang, Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9578240/
https://www.ncbi.nlm.nih.gov/pubmed/36253741
http://dx.doi.org/10.1186/s12887-022-03659-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9578240/
https://www.ncbi.nlm.nih.gov/pubmed/36253741
http://dx.doi.org/10.1186/s12887-022-03659-7

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