Russel Donis Frew
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View article: Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan
Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan Open
Neonatal diabetes (ND) is a rare subtype of diabetes occurring in the first 6 months of life. High incidence has been reported among populations with high rates of consanguineous marriage. However, there is paucity of reported data from su…
View article: A biallelic loss‐of‐function <i>PDIA6</i> variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly
A biallelic loss‐of‐function <i>PDIA6</i> variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly Open
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 define…