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Article

Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome).

American journal of medical genetics - 1 Jan 2001

Cormier-Daire V, Huber C, Munnich A

Abstract excerpt

Dyschondrosteosis (DCS) is an autosomal dominant form of mesomelic dysplasia that has been recently ascribed to large-scale deletions and nonsense mutations of the SHOX gene on the pseudoautosomal region of chromosome X and Y [Belin et al., 1998: Nat Genet 19:67-69; Shears et al., 1998: Nat Genet 19:70-73]. Here, we report the molecular analysis of a total of 23 DCS families including 16 previously reported...

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Source

Identifiers

PMID: 11891678
DOI: 10.1002/ajmg.10228

Genes

SHOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome).PMID 11891678Read ↗

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