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Article

Nephronophthisis due to a novel DCDC2 variant in a patient from African-Caribbean descent: A case report.

American journal of medical genetics. Part A - 1 Mar 2020

Slater Brady, Bekheirnia Nasim, Angelo Joseph, Bi Weimen, Braun Michael C, Bekheirnia Mir Reza

Abstract excerpt

Nephronophthisis-19 (NPHP19) due to truncating mutations in the DCDC2 gene has only been described previously in two patients. We describe a new case in a patient from the island country of Saint Vincent and the Grenadines, in the West Indies. This condition is a renal-hepatic ciliopathy with phenotypic characteristics that include hepatosplenomegaly, hepatic fibrosis with bile cholestasis, increased kidney...

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Identifiers

PMID: 31821705
DOI: 10.1002/ajmg.a.61440

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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