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Article

Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome.

Cytogenetic and genome research - 1 Jan 2022

Favilla Bianca Pereira, Burssed Bruna, Yamashiro Coelho Érika Mitie, Perez Ana Beatriz Alvarez, de Faria Soares Maria de Fátima, Meloni Vera Ayres, Bellucco Fernanda Teixeira, Melaragno Maria Isabel

Abstract excerpt

Langer-Giedion syndrome (LGS) is caused by a contiguous deletion at 8q23q24, characterized by exostoses, facial, ectodermal, and skeletal anomalies, and, occasionally, intellectual disability. LGS patients have been diagnosed clinically or by routine cytogenetic techniques, hampering the definition of an accurate genotype-phenotype correlation for the syndrome. We report two unrelated patients with 8q23q24...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 35290978
DOI: 10.1159/000522034

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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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