Article

Identification of Pathogenic PKHD1 Variants in Infants with Autosomal Recessive Polycystic Kidney Disease from the Dhofar Region, Oman

2025-11-05

Abstract excerpt

Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare, inherited disorder primarily affecting the kidneys and liver. Disease-causing variants in PKHD1 lead to a disruption of the encoded protein fibrocystin/polyductin. This study aims to identify disease causing variants in PKHD1 in families from the Dhofar region of Oman. Methods We conducted a case series of six families with antenatal dia...

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Literature Corpus work: 5da0ddce-382a-56f5-afef-5c69a0c74d83
DOI: 10.12688/f1000research.171123.1

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