Expanding the Clinical Spectrum Associated With GLIS3 Mutations.

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

URI

http://hdl.handle.net/11287/618134

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

2015-10

Journal

The Journal of Clinical Endocrinology and Metabolism

Type

Journal Article
Research Support, Non-U.S. Gov't

Publisher

Endocrine Society

DOI

10.1210/jc.2015-1827

Rights

Archived with thanks to The Journal of clinical endocrinology and metabolism

Metadata

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Abstract

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.

Publisher URL

http://www.ncbi.nlm.nih.gov/pmc/articles/pmid/26259131/

Note

This article is freely available via PubMed Central. Click on the 'Additional Link' above to access the full text.