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Article

Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome.

Journal of medical genetics - 1 Jan 2023

Taniguchi Yuki, Takeda Norifumi, Inuzuka Ryo, Matsubayashi Yoshitaka, Kato So, Doi Toru, Yagi Hiroki, Yamauchi Haruo, Ando Masahiko, Oshima Yasushi, Tanaka Sakae

Abstract excerpt

BACKGROUND: Among the several musculoskeletal manifestations in patients with Marfan syndrome, spinal deformity causes pain and respiratory impairment and is a great hindrance to patients' daily activities. The present study elucidates the genetic risk factors for the development of severe scoliosis in patients with Marfan syndrome. METHODS: We retrospectively evaluated 278 patients with pathogenic or likely...

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Identifiers

PMID: 34916231
DOI: 10.1136/jmedgenet-2021-108186
PMCID: PMC9811093

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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