{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T10:48:29Z","timestamp":1758192509582,"version":"3.44.0"},"reference-count":0,"publisher":"Necmettin Erbakan University Press","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a 13-year-old male patient with severe orthopedic problems including features of a connective tissue disorder and a heterozygous c.305T\u2009&gt;\u2009A variant found within exon 3 of the autosomal dominant collagen (COL5A1) gene causing the classic Ehlers\u2013Danlos syndrome. This variant has not been reported previously and identified as having an unknown clinical significance but classified as trending damaging per in silico prediction with high conservation among species. Our patient's father had the same gene variant and similar features of stretchable skin, easy bruising, and multiple joint dislocations. The father had unexplained heart failure requiring cardiac transplantation at 43 years of age.<\/jats:p>","DOI":"10.1055\/s-0038-1673643","type":"journal-article","created":{"date-parts":[[2018,10,13]],"date-time":"2018-10-13T18:31:57Z","timestamp":1539455517000},"page":"069-072","source":"Crossref","is-referenced-by-count":2,"title":["Classic Ehlers\u2013Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father"],"prefix":"10.53391","volume":"08","author":[{"given":"Paushpala","family":"Sen","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Merlin","family":"Butler","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2018,10,13]]},"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0038-1673643.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:38Z","timestamp":1758138338000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0038-1673643"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,13]]},"references-count":0,"journal-issue":{"issue":"02","published-online":{"date-parts":[[2019,5,3]]},"published-print":{"date-parts":[[2019,6]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0038-1673643","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"type":"print","value":"2146-4596"},{"type":"electronic","value":"2146-460X"}],"subject":[],"published":{"date-parts":[[2018,10,13]]}}}