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Article

Achondroplasia and enchondromatosis: report of three boys.

Skeletal radiology - 1 Jun 2007

Numakura Chikahiko, Kobayashi Hironori, Hasegawa Yukihiro, Adachi Masanori, Kim Ok Hwa, Nishimura Gen

Abstract excerpt

We report on three boys suffering from achondroplasia concurrent with enchondromatosis-like metaphyseal changes. Two boys who were examined by molecular analysis harbored a mutation of FGFR3, which occurs in most achondroplastic individuals. Given the prevalence of achondroplasia and enchondromatosis, the metaphyseal changes in these patients are less likely to represent the coincidence of both disorders, but...

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Source

Identifiers

PMID: 16763840
DOI: 10.1007/s00256-006-0161-x

Genes

FGFR3

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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