Renal-Hepatic-Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype.
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DOI: 10.1055/s-0039-1696974
Abstract: Renal-hepatic-pancreatic dysplasia-1 (RHPD1) is an ultra-rare genetic disorder with a high mortality. It is caused by biallelic pathogenic variants in NPHP3 , which encode nephrocytin, an important component of the ciliary protein complex. The NPHP3… read more here.
Keywords: renal hepatic; ultra rare; pancreatic dysplasia; hepatic pancreatic ... See more keywords