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Article

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Journal of medical genetics - 1 Apr 2003

Faivre L, Le Merrer M, Al-Gazali L I, Ausems M G E M, Bitoun P, Bacq D, Maroteaux P, Munnich A, Cormier-Daire V

Abstract excerpt

Desbuquois dysplasia is a rare autosomal recessive chondrodysplasia characterised by short stature, joint laxity, facial dysmorphism, a "Swedish key" appearance of the proximal femur, advanced carpal and tarsal bone age, and hand anomalies consisting of phalangeal dislocations and an extra ossification centre distal to the second metacarpal. However, the latter changes are not consistently observed in all...

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Identifiers

PMID: 12676900
DOI: 10.1136/jmg.40.4.282
PMCID: PMC1735409

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Source receipt: pubmed, retrieved 7 Sept 2026.

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