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Article

Role of GLI2 in hypopituitarism phenotype.

Journal of molecular endocrinology - 1 Jun 2015

Arnhold Ivo J P, França Marcela M, Carvalho Luciani R, Mendonca Berenice B, Jorge Alexander A L

Abstract excerpt

GLI2 is a zinc-finger transcription factor involved in the Sonic Hedgehog pathway. Gli2 mutant mice have hypoplastic anterior and absent posterior pituitary glands. We reviewed the literature for patients with hypopituitarism and alterations in GLI2. Twenty-five patients (16 families) had heterozygous truncating mutations, and the phenotype frequently included GH deficiency, a small anterior pituitary lobe and an...

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Source

Identifiers

PMID: 25878059
DOI: 10.1530/JME-15-0009

Genes

GLI2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Role of GLI2 in hypopituitarism phenotype.PMID 25878059Read ↗

Relatively high frequency of non‐synonymous GLI 2 variants in patients with congenital hypopituitarism without holoprosencephalySemantic proximity Read ↗

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Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.Semantic proximity Read ↗

Phenotype and genotype of 23 patients with hypopituitarism and pathogenic GLI2 variantsSemantic proximity Read ↗

Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism.Semantic proximity Read ↗

Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.Semantic proximity Read ↗

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Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.Semantic proximity Read ↗

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