{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T05:36:06Z","timestamp":1761975366342},"reference-count":11,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T00:00:00Z","timestamp":1366675200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>A male child with clinical features consistent with EEC\/EECUT plus syndrome (<jats:italic>e<\/jats:italic>ctrodactyly, <jats:italic>e<\/jats:italic>ctodermal dysplasia, <jats:italic>c<\/jats:italic>lefting, <jats:italic>u<\/jats:italic>rinary <jats:italic>t<\/jats:italic>ract abnormalities, and thymic abnormalities) including mild ectodermal abnormalities, ectrodactyly of hands and feet, cleft palate, bilateral hydronephrosis, and T cell lymphopenia is reported. He was noted to have T cell receptor excision circle (TREC) analysis below the cutoff for normal on newborn screening and T cell lymphopenia on further immunologic evaluation. A novel, presumably pathogenic de novo 3\u2009bp deletion in exon 7 of <jats:italic>TP63<\/jats:italic> (c.970_972delATT; NCBI Reference Sequence NM_003722.4) was identified. This observation provides supporting evidence for the association between <jats:italic>TP63<\/jats:italic> mutations and EECUT plus syndrome. Clinicians caring for infants presenting with EEC spectrum disorders in the newborn period should also consider the possibility of T cell lymphopenia. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35885","type":"journal-article","created":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T21:14:00Z","timestamp":1366751640000},"page":"1432-1435","source":"Crossref","is-referenced-by-count":12,"title":["Novel mutation in <i>TP<\/i><i>63<\/i> associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia"],"prefix":"10.1002","volume":"161","author":[{"given":"Philip F.","family":"Giampietro","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Wisconsin\u2010Madison Madison, Wisconsin"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei W.","family":"Baker","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Wisconsin\u2010Madison Madison, Wisconsin"},{"name":"Wisconsin State Laboratory of Hygiene at University of Wisconsin\u2010Madison Madison, Wisconsin"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica J.","family":"Basehore","sequence":"additional","affiliation":[{"name":"Molecular Diagnostic Laboratory Greenwood Genetic Center Greenwood, South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie R.","family":"Jones","sequence":"additional","affiliation":[{"name":"Molecular Diagnostic Laboratory Greenwood Genetic Center Greenwood, South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine M.","family":"Seroogy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Wisconsin\u2010Madison Madison, Wisconsin"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,4,23]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"crossref","first-page":"4894","DOI":"10.1210\/jc.2008-0865","article-title":"Molecular characterization of iodotyrosine dehalogenase in patients with hypothryodism","volume":"293","author":"Afink G","year":"2008","journal-title":"JCEM"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2009.04.007"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nri1331"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0703458104"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970303)69:1<65::AID-AJMG12>3.0.CO;2-M"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1985.02140140019014"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M107558200"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.6.3.3796"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2003.07.003"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/341450"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-011-9609-4"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35885","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35885","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T14:43:02Z","timestamp":1698676982000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35885"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,23]]},"references-count":11,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["10.1002\/ajmg.a.35885"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35885","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,23]]}}}