Neonatal diabetes due to homozygous INS gene promoter mutations: Highly variable phenotype, remission and early relapse during the first 3 years of life.

Abstract excerpt

Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes presenting within the first 6 months of life. INS gene promoter mutations have been shown to cause both remitting/relapsing and permanent NDM. We, herein, present three interesting patients with INS gene promoter mutations. Two cousins with an identical homozygous c.-331C > G mutation presented with NDM. The first cousin had nonremitting...

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