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Article

Two novel heterozygous missense variations within the GLI2 gene in two unrelated Argentine patients.

Medicina - 1 Jan 2000

Juanes Matías, Di Palma Isabel, Ciaccio Marta, Marino Roxana, Ramírez Pablo C, Pérez Garrid Natalia, Maceiras Mercedes, Lazzati Juan M, Rivarola Marco A, Belgorosky Alicia

Abstract excerpt

Several heterozygous GLI2 gene mutations have been reported in patients with isolated GH deficiency (IGHD) or multiple pituitary hormone deficiency (MPHD) with or without other malformations. The primary aim of this study was to analyze the presence of GLI2 gene alterations in a cohort of patients with IGHD or MPHD and ectopic/absent posterior pituitary. The coding sequence and flanking intronic regions of GLI2...

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Source

Identifiers

PMID: 27576279

Genes

GLI2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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