Expanding the Clinical Spectrum Associated With GLIS3 Mutations

  title={Expanding the Clinical Spectrum Associated With GLIS3 Mutations},
  author={Papathanassiou Dimitri and Abdelhadi M. Habeb and F. Garbuz and Ann B Millward and Sam Wallis and Khairya Moussa and Teoman Akçay and Doris R Taha and Jacob S Hogue and Anne M Slavotinek and Jerry K. H. Wales and Akshay Shetty and David Hawkes and Andrew T Hattersley and Sian Ellard and Elisa De Franco},
  booktitle={The Journal of clinical endocrinology and metabolism},
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 patients with a variety of GLIS3 mutations. METHODS GLIS3 gene mutations were sought… CONTINUE READING


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