Expanding the Clinical Spectrum Associated With GLIS3 Mutations.
Author
Dimitri, P.
Habeb, A. M.
Gurbuz, F.
Millward, A.
Wallis, S.
Moussa, K.
Akcay, T.
Taha, D.
Hogue, J.
Slavotinek, A.
Wales, J. K. H.
Shetty, A.
Hawkes, D.
Hattersley, Andrew T.
Ellard, Sian
De Franco, Elisa
Date
2015-10Journal
The Journal of Clinical Endocrinology and MetabolismType
Journal ArticleResearch Support, Non-U.S. Gov't
Publisher
Endocrine SocietyDOI
10.1210/jc.2015-1827Rights
Archived with thanks to The Journal of clinical endocrinology and metabolismMetadata
Show full item recordAbstract
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.