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Article

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

European journal of human genetics : EJHG - 1 Dec 2010

Kantaputra Piranit N, Klopocki Eva, Hennig Bianca P, Praphanphoj Verayuth, Le Caignec Cédric, Isidor Bertrand, Kwee Mei L, Shears Deborah J, Mundlos Stefan

Abstract excerpt

Mesomelic dysplasia Kantaputra type (MDK) is characterized by marked mesomelic shortening of the upper and lower limbs originally described in a Thai family. To identify the cause of MDK, we performed array CGH and identified two microduplications on chromosome 2 (2q31.1-q31.2) encompassing ∼481 and 507 kb, separated by a segment of normal copy number. The more centromeric duplication encompasses the entire HOXD...

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Identifiers

PMID: 20648051
DOI: 10.1038/ejhg.2010.116
PMCID: PMC3002849

Genes

MDK
EVX2
MTX2

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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