{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T17:12:08Z","timestamp":1693415528140},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2011,9,9]],"date-time":"2011-09-09T00:00:00Z","timestamp":1315526400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2011,11]]},"abstract":"<jats:p><jats:bold>Abstract:\u2002<\/jats:bold> We report a 7\u2010year\u2010old boy with a past medical history of B\u2010cell leukemia with dysmorphic features, including cleft palate, hypotrichosis with trichorrhexis nodosa, hypohidrosis, oligodontia, and ridging of nails. A heterozygous germline mutation, Ala111Thr, in the p63 gene was detected in the boy and in his mother, who had no clinical expression. This case emphasizes the spectrum of different phenotypical manifestations of mutations in the p63 gene and underlines the possible role of this gene as a tumor suppressor.<\/jats:p>","DOI":"10.1111\/j.1525-1470.2011.01474.x","type":"journal-article","created":{"date-parts":[[2011,9,9]],"date-time":"2011-09-09T20:59:34Z","timestamp":1315601974000},"page":"707-710","source":"Crossref","is-referenced-by-count":3,"title":["A Novel Heterozygous Point Mutation in the p63 Gene in a Patient with Ectodermal Dysplasia Associated with B\u2010Cell Leukemia"],"prefix":"10.1111","volume":"28","author":[{"given":"Miguel","family":"Cabanillas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Torrelo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benigno","family":"Monteagudo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oscar","family":"Su\u00e1rez\u2010Amor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aquilina","family":"Ram\u00edrez\u2010Santos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Gonz\u00e1lez\u2010Vilas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"de las Heras","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,9,9]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/19539"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.4161\/cc.6.3.3796"},{"key":"e_1_2_5_4_2","first-page":"177","article-title":"Contribution of p53, p63, and p73 to the developmental diseases and cancer","volume":"55","author":"Tomkova K","year":"2008","journal-title":"Neoplasma"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0009-9163.2004.00278.x"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2005.00105.x"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31271"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0001-7310(08)74970-6"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.3.221"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrfmmm.2007.08.010"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970120)68:2<168::AID-AJMG9>3.0.CO;2-L"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1067\/moe.2000.107171"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20064"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tripleo.2009.04.043"},{"key":"e_1_2_5_15_2","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1158\/1541-7786.371.2.7","article-title":"p63 and p73 roles in development and tumor formation","volume":"2","author":"Moll UM","year":"2004","journal-title":"Mol Cancer Res"},{"key":"e_1_2_5_16_2","first-page":"494","article-title":"p63 expression profiles in human normal and tumor tissues","volume":"8","author":"Di Como CJ","year":"2002","journal-title":"Clin Cancer Res"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1525-1470.2011.01474.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1525-1470.2011.01474.x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/j.1525-1470.2011.01474.x","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1525-1470.2011.01474.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T06:35:13Z","timestamp":1693290913000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1525-1470.2011.01474.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9,9]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2011,11]]}},"alternative-id":["10.1111\/j.1525-1470.2011.01474.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1525-1470.2011.01474.x","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,9,9]]}}}