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Article

Expanding the Clinical Spectrum Associated With GLIS3 Mutations.

The Journal of clinical endocrinology and metabolism - 1 Oct 2015

Dimitri P, Habeb A M, Gurbuz F, Garbuz F, Millward A, Wallis S, Moussa K, Akcay T, Taha D, Hogue J, Slavotinek A, Wales J K H, Shetty A, Hawkes D, Hattersley A T, Ellard S, De Franco E

Abstract excerpt

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 mutations are extremely rare. OBJECTIVE: The purpose of this article was determine the phenotypic presentation of 12...

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Source

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Identifiers

PMID: 26259131
DOI: 10.1210/jc.2015-1827
PMCID: PMC4596041

Genes

GLIS3

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