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With careful microscopic examination, a few pieces of thymic tissues found near the thyroid gland showed remarkable depletion of both thymocytes and cortical epithelial cells. Immunohistological stanining with T\u2010cell. Surface antigens resulted in adefinite positive reaction. Repeated respiratory infections present in this patient may, in part, be attributable to thymic hypoplasia. Other major anomalies included broad thumbs and great toes, microphthalmia, arrhinencephaly, patent ductus arteriosus, stenosis of the uretero\u2010vesicular junction, bilateral cryptorchidism, and minor facial anomalies. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460311","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:56:09Z","timestamp":1118508969000},"page":"293-296","source":"Crossref","is-referenced-by-count":18,"title":["Rubinstein\u2013Taybi syndrome with thymic hypoplasia"],"prefix":"10.1002","volume":"46","author":[{"given":"Hiroshi","family":"Kimura","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yohko","family":"Ito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiro","family":"Koda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yutaka","family":"Hase","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(89)80837-6"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6606851"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00491916"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80207-3"},{"key":"e_1_2_1_6_1","first-page":"A54","article-title":"Phenotypic overlap between velo\u2010cardi\u2010facial syndrome (VCF) and the DiGeorge sequence (DGS)","volume":"37","author":"Goldberg R","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(89)80841-8"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370610"},{"key":"e_1_2_1_9_1","first-page":"97","article-title":"The cerebro\u2010hepato\u2010renal syndrome of Zell\u2010weger: Similarity to and differentiation from the DiGeorge syndrome","volume":"3","author":"Hong R","year":"1981","journal-title":"Thymus"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380430"},{"key":"e_1_2_1_11_1","first-page":"271","article-title":"Ultrastructural localization of betamicroseminoprotein, prostate specific antigen, in human prostate and sperm","volume":"114","author":"Ito Y","year":"1989","journal-title":"J Lab Clin Med"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250615"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370613"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320124"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1980.tb07044.x"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370603"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1963.02080040590010"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80186-9"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)90734-K"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197404000-00471"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320460311","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320460311","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T03:36:02Z","timestamp":1698291362000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320460311"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,5,15]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1993,5,15]]}},"alternative-id":["10.1002\/ajmg.1320460311"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320460311","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,5,15]]}}}