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Article

SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.

American journal of medical genetics. Part A - 15 Jul 2004

Thomas N Simon, Maloney Viv, Bass Paul, Mulik Varsha, Wellesley Diana, Castle Bruce

Abstract excerpt

Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) are caused by mutations in the SHOX gene. LWD results from haploinsufficiency and is dominantly inherited, while the more severe LMD results from the homozygous loss of SHOX. We describe a family and fetus with two SHOX mutat...

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Source

Identifiers

PMID: 15214013
DOI: 10.1002/ajmg.a.30095

Genes

SHOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15214013-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.PMID 15214013Read ↗

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.Semantic proximity Read ↗

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

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

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

Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer.Semantic proximity Read ↗

SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.Semantic proximity Read ↗

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).Semantic proximity Read ↗

Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect.Semantic proximity Read ↗

Langer mesomelic dysplasia in early fetuses: two cases and a literature review.Semantic proximity Read ↗

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

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

Phenotypes Associated with SHOX Deficiency.Semantic proximity Read ↗

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