{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T02:52:40Z","timestamp":1779159160414,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,9,4]],"date-time":"2017-09-04T00:00:00Z","timestamp":1504483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["R56\u2010HL132921\u201001"],"award-info":[{"award-number":["R56\u2010HL132921\u201001"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006058","name":"St. Baldrick's Foundation","doi-asserted-by":"publisher","award":["419339"],"award-info":[{"award-number":["419339"]}],"id":[{"id":"10.13039\/100006058","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Diagnosis of bone marrow failure (BMF) disorders is challenging but essential for optimal patient management. Here, we report a young adult from nonconsanguineous parents with progressive pancytopenia since childhood, bone pain, increased bone density, and haphazard ossification replacing hematopoiesis within the bone marrow. Sequencing revealed two novel biallelic variants of unknown significance within the thromboxane A synthase gene, <jats:italic>TBXAS1<\/jats:italic> (c.266T\u00a0&gt;\u00a0C; c.989T\u00a0&gt;\u00a0C), bioinformatically predicted to disrupt the protein. <jats:italic>TBXAS1<\/jats:italic> mutations result in Ghosal hematodiaphyseal dysplasia (OMIM 231095), the autosomal recessive syndrome associated with abnormal bone structure and BMF. Identification of the genetic defect prompted steroid therapy leading to resolution of symptoms.<\/jats:p>","DOI":"10.1002\/pbc.26777","type":"journal-article","created":{"date-parts":[[2017,9,4]],"date-time":"2017-09-04T08:42:43Z","timestamp":1504514563000},"source":"Crossref","is-referenced-by-count":20,"title":["Chronic steroid\u2010response pancytopenia and increased bone density due to thromboxane synthase deficiency"],"prefix":"10.1002","volume":"65","author":[{"given":"Richa","family":"Sharma","sequence":"first","affiliation":[{"name":"Department of Pediatrics Herman B Wells Center for Pediatric Research Indiana University School of Medicine  Indianapolis Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Sierra Potchanant","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Herman B Wells Center for Pediatric Research Indiana University School of Medicine  Indianapolis Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer E.","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Division of Hematology\u2010Oncology Department of Medicine Indiana University School of Medicine  Indianapolis Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5779-9103","authenticated-orcid":false,"given":"Grzegorz","family":"Nalepa","sequence":"additional","affiliation":[{"name":"Division of Hematology\u2010Oncology Department of Pediatrics Riley Hospital for Children at IU Health Bone Marrow Failure Program Indiana University School of Medicine  Indianapolis Indiana"},{"name":"Department of Medical and Molecular Genetics Indiana University School of Medicine  Indianapolis Indiana"},{"name":"Department of Biochemistry Indiana University School of Medicine  Indianapolis Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,9,4]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/pir.2014-0087"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.66"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0311-1"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80527-4"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(89)80170-2"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0046688"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13312-016-0851-y"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.22662"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01956148"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-007-0047-5"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0000000000000279"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-012-0872-z"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1080\/08880010390203945"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-10-3661"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.26777","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.26777","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,30]],"date-time":"2023-09-30T00:56:04Z","timestamp":1696035364000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.26777"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,4]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1002\/pbc.26777"],"URL":"https:\/\/doi.org\/10.1002\/pbc.26777","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,4]]},"article-number":"e26777"}}