Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome

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: W...

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Detalles Bibliográficos
Autores principales: Splittstoesser, Vera, Vollbach, Heike, Plamper, Michaela, Garbe, Werner, De Franco, Elisa, Houghton, Jayne A. L., Dueker, Gesche, Ganschow, Rainer, Gohlke, Bettina, Schreiner, Felix
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/PMC8087289/
https://www.ncbi.nlm.nih.gov/pubmed/33935973
http://dx.doi.org/10.3389/fendo.2021.665336

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