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Article

Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene.

International journal of molecular sciences - 5 Feb 2026

Beskorovainaya Tatiana S, Markova Tatiana V, Polyakov Aleksander V, Shchagina Olga A, Kenis Vladimir M

Abstract excerpt

The SHOX gene is located on both sex chromosomes, X and Y, within the pseudoautosomal region 1 (PAR1). Gross deletions at the SHOX locus lead to protein insufficiency and are manifested by growth disorders such as Leri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), and idiopathic short stature (ISS). In cases of the SHOX gene duplication, the phenotype may range from tall to short stature and...

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Source

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Identifiers

PMID: 41683999
DOI: 10.3390/ijms27031580
PMCID: PMC12897797

Genes

SHOX
CYP26C1

Provenance

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

Related research

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Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene.PMID 41683999Read ↗

The SHOX region and its mutations.Semantic proximity Read ↗

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Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature.Semantic proximity Read ↗

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

Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short StatureSemantic proximity Read ↗

Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia.Semantic proximity Read ↗

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.Semantic proximity Read ↗

SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.Semantic proximity Read ↗

Phenotypes Associated with SHOX Deficiency.Semantic proximity Read ↗

Phenotypes Associated with SHOX DeficiencySemantic proximity Read ↗

A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects.Semantic proximity Read ↗

Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.Semantic proximity Read ↗

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