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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9811093

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

About this item

Full title

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

Publisher

England: BMJ Publishing Group Ltd

Journal title

Journal of medical genetics, 2023-01, Vol.60 (1), p.74-80

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group Ltd

More information

Scope and Contents

Contents

BackgroundAmong 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.MethodsWe retrospe...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9811093

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9811093

Other Identifiers

ISSN

0022-2593,1468-6244

E-ISSN

1468-6244

DOI

10.1136/jmedgenet-2021-108186

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