Article
Novel GLIS3 mutations demonstrate an extended multisystem phenotype.
European journal of endocrinology - 1 Mar 2011
Dimitri P, Warner J T, Minton J A L, Patch A M, Ellard S, Hattersley A T, Barr S, Hawkes D, Wales J K, Gregory J W
Abstract excerpt
INTRODUCTION: Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with six affected cases from three families reported to date. Additional features, described previously, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay and facial dysmorphism. SUBJECTS: We report two new cases...
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