Article
Case Report: Neonatal Diabetes Mellitus Caused by a Novel GLIS3 Mutation in Twins.
Frontiers in endocrinology - 1 Jan 2021
London Shira, De Franco Elisa, Elias-Assad Ghadir, Barhoum Marie Noufi, Felszer Clari, Paniakov Marina, Weiner Scott A, Tenenbaum-Rakover Yardena
Abstract excerpt
Background: Mutations in GLIS3 cause a rare syndrome characterized by neonatal diabetes mellitus (NDM), congenital hypothyroidism, congenital glaucoma and cystic kidneys. To date, 14 mutations in GLIS3 have been reported, inherited in an autosomal recessive manner. GLIS3 is a key transcription factor involved in β-cell development, insulin expression, and development of the thyroid, eyes, liver and kidneys....
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