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We herein describe two Coats plus patients with telomere and genomic defects; both harbor distinct, novel mutations in STN1, a member of the human CTC1\u2013STN1\u2013TEN1 (CST) complex, thus linking this gene for the first time to a human telomeropathy. We characterized the patients\u2019 phenotype, recapitulated it in a zebrafish model and rescued cellular and clinical aspects by the ectopic expression of wild-type STN1 or by thalidomide treatment. Interestingly, a significant lengthy control of the gastrointestinal bleeding in one of our patients was achieved by thalidomide treatment, exemplifying a successful bed-to-bench-and-back approach.<\/jats:p>","DOI":"10.1084\/jem.20151618","type":"journal-article","created":{"date-parts":[[2016,7,18]],"date-time":"2016-07-18T10:12:31Z","timestamp":1468836751000},"page":"1429-1440","update-policy":"https:\/\/doi.org\/10.1084\/jem.crossmarkpolicy","source":"Crossref","is-referenced-by-count":140,"title":["Mutations in\n                    <i>STN1<\/i>\n                    cause Coats plus syndrome and are associated with genomic and telomere defects"],"prefix":"10.1084","volume":"213","author":[{"given":"Amos J.","family":"Simon","sequence":"first","affiliation":[{"name":"Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel 1"},{"name":"Division of Haematology and Bone Marrow Transplantation, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel 2"},{"name":"The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel 3"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atar","family":"Lev","sequence":"additional","affiliation":[{"name":"Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel 1"},{"name":"The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel 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