1.
Clin Genet
; 102(5): 457-458, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35856135
RESUMO
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.