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[Clinical and molecular study in a family with multiple osteochondromatosis].

Acta ortopedica mexicana - 1 Jan 2000

Cammarata-Scalisi F, Stock F, Avendaño A, Cozar M, Balcells S, Grinberg D

Abstract excerpt

We present two cases of a family with the diagnosis of multiple osteochondromatosis, which was confirmed by molecular study with nonsense in heterozygosis mutation c.1219CT, (p.Gln407Stop) in the EXT1 gene. In these cases, the Madelung deformity was presented in one patient as an uncommon finding and chondrosarcoma as a feared complication in the other case, highlighting intrafamilial variation, which is why...

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PMID: 30182558

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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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