Expanding the Clinical Spectrum Associated With<i>GLIS3</i>Mutations

Dimitri, Paul; Habeb, Abdelhadi; Garbuz, F.; Millward, Ann; Wallis, S.; Moussa, Khairya; Akçay, Teoman; Taha, Doris; S. Hogue, Jacob; Slavotinek, Anne; K Wales, J; Shetty, A; Hawkes, Davida; T. Hattersley, Andrew; Ellard, Sian; De Franco, Elisa

doi:10.1210/jc.2015-1827

Public

Expanding the Clinical Spectrum Associated With<i>GLIS3</i>Mutations

Published in The Journal of Clinical Endocrinology & Metabolism • Aug 10, 2015

Authors:

Paul Dimitri

Abdelhadi Habeb

F. Garbuz

Abstract

CONTEXT: GLIS3 (GLI-similar 3) is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein with 5 C2H2-type zinc finger domains. The protein is expressed early in embryogenesis and plays a critical role as both a repressor and activator of transcription. Human GLIS3 muta...

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Open Access

Subject

Biology

Frameshift mutation

Phenotype

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