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Article

Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly

5 Aug 2010

Abstract excerpt

CONTEXT: GLI2 is a transcription factor downstream in Sonic Hedgehog signaling, acting early in ventral forebrain and pituitary development. GLI2 mutations were reported in patients with holoprosencephaly (HPE) and pituitary abnormalities. OBJECTIVE: The aim was to report three novel frameshift/nonsense GLI2 mutations and the phenotypic variability in the three families. SETTING: The study was conducted at a...

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Identifiers

PMID: 20685856
DOI: 10.1210/jc.2010-1050

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