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 Marfan syndrome
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England: BMJ Publishing Group Ltd
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English
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England: BMJ Publishing Group Ltd
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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...
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Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9811093
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9811093
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ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2021-108186