Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
MASS phenotype is a connective tissue disorder clinically overlapping with Marfan syndrome and caused by pathogenic variants in
FBN1
. We report four patients from three families presenting with a MASS-like phenotype consisting of tall stature, arachnodactyly, spinal deformations, dural ectasia, pectus and/or feet deformations, osteoarthritis...
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Full title
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype
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TN_cdi_doaj_primary_oai_doaj_org_article_9abe0c60c92645cdb0f0b6565cf5ba06
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9abe0c60c92645cdb0f0b6565cf5ba06
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-022-08476-7
