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Article

Mild phenotypes in patients with different deletions in the 3' enhancer region of SHOX.

European journal of human genetics : EJHG - 1 Dec 2025

Miranda Valancy, Sabeh Pascale, Seiltgens Cristian, Molidperee Sirinart, Janelle Chantal, Lemyre Emmanuelle, Campeau Philippe M

Abstract excerpt

Haploinsufficiency of the short stature homeobox-containing (SHOX) gene leads to a phenotypic spectrum ranging from Leri-Weill dyschondrosteosis (LWD) to SHOX-deficient short stature. SHOX nullizygosity leads to Langer mesomelic dysplasia. Pathogenic variants can include whole or partial gene deletions or duplications, point mutations within the coding sequence, and deletions of upstream and downstream regulatory...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38914686
DOI: 10.1038/s41431-024-01646-3
PMCID: PMC12669571

Genes

SHOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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Mild phenotypes in patients with different deletions in the 3' enhancer region of SHOX.PMID 38914686Read ↗

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The SHOX region and its mutations.Semantic proximity Read ↗

Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site VariantSemantic proximity Read ↗

Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD).Semantic proximity Read ↗

Clinical and genetic spectrum of SHOX deficiency: phenotypic heterogeneity and the "Jumping SHOX" phenomenon.Semantic proximity Read ↗

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