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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.
Objective
Hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or more rarely feature as part of a syndrome. Screening for mutations in the “syndromic” HH genes is guided by phenotype with genetic testing used to confirm the clinical diagnosis. As HH can be the presenting feature of a syndrome, it is possible that mutations will be missed as these genes are not routinely screened in all newly...
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