A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly

Abstract excerpt

We report a second patient with intrauterine growth retardation, congenital polycystic kidney disease, infancy-onset diabetes, microcephaly, and liver fibrosis caused by a homozygous PDIA6 loss-of-function variant. Our study further defines the genetic and clinical features of this rare syndromic form of infancy-onset diabetes.

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