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Article

Relatively high frequency of non‐synonymous GLI 2 variants in patients with congenital hypopituitarism without holoprosencephaly

11 Sept 2012

Abstract excerpt

OBJECTIVE: GLI2 is a downstream transcription factor in Sonic Hedgehog signalling, acting early in ventral forebrain and pituitary development. Heterozygous nonsense GLI2 mutations have been reported in patients with isolated or combined pituitary hormone deficiency (CPHD), with or without holoprosencephaly. The aim of this study was to screen for GLI2 mutations in a large cohort of patients with congenital GH...

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PMID: 22967285
DOI: 10.1111/cen.12044

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