Expanding the Clinical Spectrum Associated With GLIS3 Mutations.

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Authors
Dimitri, P.
Habeb, A. M.
Gurbuz, F.
Millward, A.
Wallis, S.
Moussa, K.
Akcay, T.
Taha, D.
Hogue, J.
Slavotinek, A.
Journal
The Journal of Clinical Endocrinology and Metabolism
Type
Journal Article
Research Support, Non-U.S. Gov't
Publisher
Endocrine Society
Rights
Archived with thanks to The Journal of clinical endocrinology and metabolism
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 mutations are extremely rare.
Citation
Expanding the Clinical Spectrum Associated With GLIS3 Mutations. 2015, 100 (10):E1362-9 J. Clin. Endocrinol. Metab.
Note
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