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Phenotype and genotype of 23 patients with hypopituitarism and pathogenic GLI2 variants

1 Feb 2025

Abstract excerpt

OBJECTIVE: To analyze the phenotype and genotype of patients with congenital hypopituitarism (CH) and pathogenic (P) GLI2 variants. METHODS: A large cohort of patients with hypopituitarism was screened for GLI2 variants using a next-generation sequencing panel. Genotype-phenotype correlations were then assessed using GENHYPOPIT phenotypic data. RESULTS: Of the 39 GLI2 variants identified in 717 index cases, 17...

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PMID: 39938560
DOI: 10.1093/ejendo/lvaf015

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