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Article

Disease-specific complications and multidisciplinary interventions in achondroplasia.

Journal of bone and mineral metabolism - 1 Mar 2022

Kitoh Hiroshi, Matsushita Masaki, Mishima Kenichi, Kamiya Yasunari, Sawamura Kenta

Abstract excerpt

Achondroplasia (ACH) is the most common skeletal dysplasia and characterized by a disproportionate short stature, macrocephaly with frontal bossing, exaggerated lumbar lordosis, and trident hands. It is induced by activated mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. In addition to short stature, patients with ACH have a high prevalence of medical complications, including upper airway...

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Identifiers

PMID: 35028714
DOI: 10.1007/s00774-021-01298-z

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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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