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Article

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

The Journal of clinical endocrinology and metabolism - 1 Mar 2013

Flemming G M C, Klammt J, Ambler G, Bao Y, Blum W F, Cowell C, Donaghue K, Howard N, Kumar A, Sanchez J, Stobbe H, Pfäffle R W

Abstract excerpt

CONTEXT: The GLI2 transcription factor is a major effector protein of the sonic hedgehog pathway and suggested to play a key role in pituitary development. Genomic GLI2 aberrations that mainly result in truncated proteins have been reported to cause holoprosencephaly or holoprosencephaly-like features, sometimes associated with hypopituitarism. OBJECTIVE: Our objective was to determine the frequency of GLI2...

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kruppel-Like Transcription Factors

Share to Mutation, Missense

Share to Nuclear Proteins

Share to Pituitary Hormones

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Share to Zinc Finger Protein Gli2

Source

Open in PubMed Open full text

Identifiers

PMID: 23408573
DOI: 10.1210/jc.2012-3224
PMCID: PMC3590478

Genes

GLI2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.PMID 23408573Read ↗

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