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

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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://localhost:8080/xmlui/handle/CUHPOERS/241961

Description:

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.

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