Article
Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome.
Frontiers in endocrinology - 1 Jan 2021
Splittstoesser Vera, Vollbach Heike, Plamper Michaela, Garbe Werner, De Franco Elisa, Houghton Jayne A L, Dueker Gesche, Ganschow Rainer, Gohlke Bettina, Schreiner Felix
Abstract excerpt
Background: Neonatal diabetes with congenital hypothyroidism (NDH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLI-similar 3 coding gene GLIS3. Almost 20 patients have been reported to date, with significant phenotypic variability. Case presentation: We describe a boy with a homozygous deletion (exons 5-9) in the GLIS3 gene, who presents novel clinical aspects not...
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