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hrp0086fc3.3 | Pituitary | ESPE2016

Contribution of GLI2 Mutations to Pituitary Deficits and Delineation of the Associated Phenotypic Spectrum

Cohen Enzo , Pham Aurelie , Dastot Florence , Collot Nathalie , Afenjar Alexandra , Carel Jean-Claude , Furioli Jean , Leger Juliane , Leheup Bruno , Mignot Brigitte , Naud-Saudreau Catherine , Nivot Sylvie , Polak Michel , Rappaport Raphael , Simon Dominique , Sizonenko Pierre , Vincent-Delorme Catherine , Zung Amnon , Amselem Serge , Legendre Marie

Background: GLI2 is a zinc-finger transcription factor of the SHH signaling pathway, expressed during ventral forebrain and pituitary development. GLI2 mutations account for microforms of dominant holoprosencephaly. So far, only 15 unambiguous mutations were found in hypopituitarism essentially combined pituitary hormone deficiency (CPHD) frequently associated with holoprosencephaly-like malformations and/or polydactyly.Objective and...

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ESPE Abstracts

Contribution of GLI2 Mutations to Pituitary Deficits and Delineation of the Associated Phenotypic Spectrum

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