{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T02:18:24Z","timestamp":1790734704024,"version":"4.1.0"},"reference-count":37,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,6,23]],"date-time":"2021-06-23T00:00:00Z","timestamp":1624406400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2021,6,23]],"date-time":"2021-06-23T00:00:00Z","timestamp":1624406400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Biallelic mutations in\n                    <jats:italic>B3GALT6<\/jats:italic>\n                    , coding for a galactosyltransferase involved in the synthesis of glycosaminoglycans (GAGs), have been associated with various clinical conditions, causing spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1 or SEMDJL Beighton type), Al\u2010Gazali syndrome (ALGAZ), and a severe progeroid form of Ehlers\u2010Danlos syndrome (EDSSPD2). In the 2017 Ehlers\u2010Danlos syndrome (EDS) classification, Beta3GalT6\u2010related disorders were grouped in the spondylodysplastic EDSs together with spondylodysplastic EDSs due to\n                    <jats:italic>B4GALT7<\/jats:italic>\n                    and\n                    <jats:italic>SLC39A13<\/jats:italic>\n                    mutations. Herein, we describe a patient with a previously unreported homozygous pathogenic\n                    <jats:italic>B3GALT6<\/jats:italic>\n                    variant resulting in a complex phenotype more severe than spondyloepimetaphyseal dysplasia with joint laxity type 1, and having dural ectasia and aortic dilation as additionally associated features, further broadening the phenotypic spectrum of the Beta3GalT6\u2010related syndromes. We also document the utility of repeating sequencing in patients with uninformative exomes, particularly when performed by using \u201cfirst generations\u201d enrichment capture methods.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62399","type":"journal-article","created":{"date-parts":[[2021,6,23]],"date-time":"2021-06-23T04:58:30Z","timestamp":1624424310000},"page":"3153-3160","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Broadening the phenotypic spectrum of\n                    <scp>Beta3GalT6<\/scp>\n                    \u2010associated phenotypes"],"prefix":"10.1002","volume":"185","author":[{"given":"Chiara","family":"Leoni","sequence":"first","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Tedesco","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli IRCCS  Rome Italy"},{"name":"Dipartimento di Scienze Della Vita e Sanit\u00e0 Pubblica Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1993-8018","authenticated-orcid":false,"given":"Francesca Clementina","family":"Radio","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9 IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Chillemi","sequence":"additional","affiliation":[{"name":"Dipartimento per la Innovazione Nei Sistemi Biologici, Agroalimentari e Forestali Universit\u00e0 Della Tuscia  Viterbo Italy"},{"name":"Istituto di Biomembrane, Bioenergetica e Biotecnologie Molecolari Centro Nazionale Delle Ricerche  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Leone","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Della Vita e Sanit\u00e0 Pubblica Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"},{"name":"Dipartimento di Scienze Radiologiche ed Ematologiche Fondazione Policlinico Universitario A. 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