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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2022
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| Materias: | |
| 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 |