{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T15:09:42Z","timestamp":1781276982882,"version":"3.54.1"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2009,9,16]],"date-time":"2009-09-16T00:00:00Z","timestamp":1253059200000},"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":[[2010,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a case of acquired monosomy 7 myelodysplastic syndrome (MDS) in a boy with congenital adrenocortical insufficiency, genital anomalies, growth delay, skin hyperpigmentation, and chronic lung disease. Some of his clinical manifestations were suggestive of dyskeratosis congenita (DC), while other features resembled IMAGe association. DC has been linked to mutations in telomere maintenance genes. The genetic basis of IMAGe association is unknown, although mice harboring a mutation in a telomere maintenance gene, <jats:italic>Tpp1<\/jats:italic>, have adrenal hypoplasia congenita. We considered the possibility that this patient has a defect in telomere function resulting in features of both DC and IMAGe association. Pediatr Blood Cancer 2010; 54:154\u2013157. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/pbc.22283","type":"journal-article","created":{"date-parts":[[2009,9,16]],"date-time":"2009-09-16T18:56:51Z","timestamp":1253127411000},"page":"154-157","source":"Crossref","is-referenced-by-count":8,"title":["Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association"],"prefix":"10.1002","volume":"54","author":[{"given":"Sharon","family":"McDonald","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David B.","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Pumbo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shashikant","family":"Kulkarni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip J.","family":"Mason","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Else","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Bessler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Ferkol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shalini","family":"Shenoy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,9,16]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2006.06.010"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.11221"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminhematol.2006.04.001"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.10.004"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mad.2007.11.002"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-08-019729"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.01.006"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-006-0321-y"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1159\/000058105"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2003.09.052"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31365"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.84.12.6186"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-1589"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10577-007-1175-5"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi011"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-07-166421"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1704795"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2007.02855.x"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1677\/JME-08-0189"},{"key":"e_1_2_5_21_2","first-page":"854","article-title":"Monosomy 7 syndrome associated with congenital adrenal hypoplasia and male pseudohermaphroditism","volume":"87","author":"Le SQ","year":"1996","journal-title":"Obstet Gynecol"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.22283","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.22283","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T07:12:40Z","timestamp":1696921960000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.22283"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,9,16]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,1]]}},"alternative-id":["10.1002\/pbc.22283"],"URL":"https:\/\/doi.org\/10.1002\/pbc.22283","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,9,16]]}}}