2022
DOI: 10.14341/dm12826
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Novel GLIS3 mutation in patient with neonatal diabetes mellitus and congenital hypothyroidism (NDH-syndrome)

Abstract: Mutations in the GLIS3 gene encoding the GLIS3 transcription factor are cause of a rare syndromic form of neonatal diabetes mellitus (NDM) with congenital hypothyroidism. Additional features include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay and other anomalies. This disease in foreign literature is called NDH-syndrome (Neonatal diabetes and Hypothyroidism syndrome).We present the description of a patient with this syndrome with novel homozygous GLIS3 mutation.Our patient is… Show more

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