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Article

Kantaputra mesomelic dysplasia: a second reported family.

American journal of medical genetics. Part A - 1 Jul 2004

Shears Deborah J, Offiah Amaka, Rutland Paul, Sirimanna Tony, Bitner-Glindzicz Maria, Hall Christine

Abstract excerpt

We present the clinical and radiographic findings in a mother and son with a dominantly inherited mesomelic skeletal dysplasia almost identical to that described in a large Thai family by Kantaputra et al., in which ankle, carpal and tarsal synostoses were noted. The proband in the family is a 48-year-old woman with mesomelic limb shortening, most pronounced in the upper limbs. Her parents were of normal stature...

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Source

Identifiers

PMID: 15211647
DOI: 10.1002/ajmg.a.20640

Genes

HOXD11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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