Case Report: Neonatal Diabetes Mellitus Caused by a Novel GLIS3 Mutation in Twins

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 facto...

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Detalles Bibliográficos
Autores principales: London, Shira, De Franco, Elisa, Elias-Assad, Ghadir, Barhoum, Marie Noufi, Felszer, Clari, Paniakov, Marina, Weiner, Scott A., Tenenbaum-Rakover, Yardena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8169976/
https://www.ncbi.nlm.nih.gov/pubmed/34093443
http://dx.doi.org/10.3389/fendo.2021.673755

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