Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies

ConclusionsWe found all ARPKD cases withoutPKHD1 point mutations to be phenocopies, and none to be explained by biallelicPKHD1 copy number variations. Screening for copy number variations is recommended in patients with a heterozygous point mutation.
Source: Pediatric Nephrology - Category: Urology & Nephrology Source Type: research