Phenotypic characterization of patients with deletions in the 3’-flanking SHOX region
Phenotypic characterization of patients with deletions in the 3’-flanking SHOX region
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United States: PeerJ, Inc
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Language
English
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United States: PeerJ, Inc
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Context. Leri-Weill dyschondrosteosis is a clinically variable skeletal dysplasia, caused by SHOX deletion or mutations, or a deletion of enhancer sequences in the 3'-flanking region. Recently, a 47.5 kb recurrent PAR1 deletion downstream of SHOX was reported, but its frequency and clinical importance are still unknown. Objective. This study aims t...
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Phenotypic characterization of patients with deletions in the 3’-flanking SHOX region
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TN_cdi_doaj_primary_oai_doaj_org_article_356f357943264f3db6ad633274a764e9
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_356f357943264f3db6ad633274a764e9
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ISSN
2167-8359
E-ISSN
2167-8359
DOI
10.7717/peerj.35
