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Patients carrying mutations in TERT show a wide clinical spectrum of abnormalities, including classical DC, isolated bone marrow failure and lung fibrosis. Here, we report the clinical description and biological analysis of a patient with compound heterozygosity for two new missense mutations in TERT (V96L and V119L). Both mutations segregate with a short telomere phenotype, though only V96L segregates with clinical signs of DC. Pediatr Blood Cancer. 2010;55:550\u2013553. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/pbc.22589","type":"journal-article","created":{"date-parts":[[2010,5,27]],"date-time":"2010-05-27T05:07:11Z","timestamp":1274936831000},"page":"550-553","source":"Crossref","is-referenced-by-count":11,"title":["Compound heterozygosity for two new TERT mutations in a patient with aplastic anemia"],"prefix":"10.1002","volume":"55","author":[{"given":"Anna","family":"Aspesi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Vallero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Rocci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Pavesi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Lanciotti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ugo","family":"Ramenghi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irma","family":"Dianzani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,7,19]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-08-019729"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2009.01.010"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.biochi.2007.07.017"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-12-062851"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-10-120907"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2005.04.004"},{"key":"e_1_2_6_8_2","first-page":"1054","article-title":"GITMO prospective randomized study. 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