{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T06:49:35Z","timestamp":1696920575900},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2010,11,12]],"date-time":"2010-11-12T00:00:00Z","timestamp":1289520000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2011,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder characterized by thrombocytopenia and absence or decline in the number of megakaryocytic precursors in the bone marrow. It is caused by mutations in the thrombopoietin receptor gene, <jats:italic>c\u2010mpl<\/jats:italic>, involved in the proliferation and differentiation of megakaryocytes and platelets. The association between CAMT and central nervous system (CNS) anomalies has been reported in the literature, albeit not very frequently. Here we present a unique case where CAMT appeared associated to cerebellum agenesis, hypoplasia of the corpus callosum and brainstem, facial malformations, and developmental delay. Pediatr Blood Cancer 2011;56:452\u2013453. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/pbc.22904","type":"journal-article","created":{"date-parts":[[2010,11,12]],"date-time":"2010-11-12T16:44:39Z","timestamp":1289580279000},"page":"452-453","source":"Crossref","is-referenced-by-count":4,"title":["CAMT in a female with developmental delay, facial malformations and central nervous system anomalies"],"prefix":"10.1002","volume":"56","author":[{"given":"Nazareth","family":"Martin\u00f3n\u2010Torres","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel","family":"V\u00e1zquez\u2010Donsi\u00f3n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lourdes","family":"Loidi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose Miguel","family":"Couselo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,11,12]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V97.1.139"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2000.02175.x"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-16846"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1970.tb08986.x"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.6.3132"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2005.05819.x"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e318158152e"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9415"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.exphem.2009.01.001"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0406008102"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500111"},{"key":"e_1_2_5_13_2","first-page":"377","article-title":"Thrombocytopenia\u2010absent radius (tar) syndrome: A case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney","volume":"16","author":"Sk\u00f3rka A","year":"2005","journal-title":"Genet Couns"},{"key":"e_1_2_5_14_2","first-page":"281","volume-title":"Nathan and Oski's hematology of infancy and childhood","author":"Alter BP","year":"2003"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-200110000-00016"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-07-2622"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2000.02099.x"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.22904","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.22904","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.22904","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T13:44:05Z","timestamp":1696859045000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.22904"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11,12]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011,3]]}},"alternative-id":["10.1002\/pbc.22904"],"URL":"https:\/\/doi.org\/10.1002\/pbc.22904","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,11,12]]}}}