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Article

[Culler-Jones syndrome polymorphism].

Problemy endokrinologii - 2 Dec 2025

Raykina E N, Kolodkina A A, Bolmasova A V, Bondarenko S P, Pankratova M S, Tiulpakov A N, Zabudskaya K G, Bezlepkina O B

Abstract excerpt

BACKGROUND: Culler-Jones syndrome is a rare autosomal dominant disease caused by nucleotide sequence changes in the GLI2 gene. The prevalence of this pathology is unknown, as the number of observations is small, some carriers of variants in the GLI2 gene have no manifestations of the disease. The clinical phenotype of the disease is heterogeneous and includes hypopituitarism, malformations of internal organs,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 41640148
DOI: 10.14341/probl13565
PMCID: PMC12954420

Genes

GLI2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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