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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Detalhes bibliográficos
Publicado no:Front Endocrinol (Lausanne)
Main Authors: London, Shira, De Franco, Elisa, Elias-Assad, Ghadir, Barhoum, Marie Noufi, Felszer, Clari, Paniakov, Marina, Weiner, Scott A., Tenenbaum-Rakover, Yardena
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021
Assuntos:
Endocrinology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8169976/
https://ncbi.nlm.nih.gov/pubmed/34093443
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2021.673755
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