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Article

Low bone mineral density in achondroplasia and hypochondroplasia.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Aug 2016

Matsushita Masaki, Kitoh Hiroshi, Mishima Kenichi, Kadono Izumi, Sugiura Hiroshi, Hasegawa Sachi, Nishida Yoshihiro, Ishiguro Naoki

Abstract excerpt

BACKGROUND: Achondroplasia (ACH) and hypochondroplasia (HCH) are the most common form of short-limb skeletal dysplasias caused by activated fibroblast growth factor receptor 3 (FGFR3) signaling. Although decreased bone mass was reported in gain-of-function mutation in Fgfr3 mice, both disorders have never been described as osteoporotic. In the present study, we evaluated bone mineral density (BMD) in ACH and HCH...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26716907
DOI: 10.1111/ped.12890

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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