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Article

Diagnosis of hypochondroplasia: the role of radiological interpretation. Italian Study Group for Hypochondroplasia.

Pediatric radiology - 1 Mar 2001

Prinster C, Del Maschio M, Beluffi G, Maghnie M, Weber G, Del Maschio A, Chiumello G

Abstract excerpt

BACKGROUND: Hypochondroplasia is characterised by phenotypic and genetic heterogeneity. Differentiation from other conditions with disproportionate short stature is often difficult. OBJECTIVE: To determine the reliability of radiological interpretation in the diagnosis of hypochondroplasia and to...

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Source

Identifiers

PMID: 11297088
DOI: 10.1007/s002470000398

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-11297088-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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