{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:15:04Z","timestamp":1761718504204},"reference-count":36,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2016,6,28]],"date-time":"2016-06-28T00:00:00Z","timestamp":1467072000000},"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":[[2016,9]]},"abstract":"<jats:sec><jats:label \/><jats:p>We describe two sibling fetuses with urogenital abnormalities detected by prenatal ultrasound, in which post\u2010delivery examination showed split hand and foot malformation, and bilateral cleft lip and palate. These findings are consistent with ectrodactyly\u2010ectodermal dysplasia\u2010cleft lip with or without cleft palate syndrome (EEC). Both fetuses were found to have the same missense mutation in <jats:italic>TP63<\/jats:italic> (c.1051G\u2009&gt;\u2009A; p.D351N). Parental clinical examinations and lymphocyte DNA analyses were normal. This report illustrates the potential severity of urogenital defects in <jats:italic>TP63<\/jats:italic>\u2010related disorders, which may be detectable with fetal ultrasonography. It highlights the need to counsel for the possibility of germline mosaicism in <jats:italic>TP63<\/jats:italic>\u2010associated disorders. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37816","type":"journal-article","created":{"date-parts":[[2016,6,29]],"date-time":"2016-06-29T09:48:12Z","timestamp":1467193692000},"page":"2372-2376","source":"Crossref","is-referenced-by-count":9,"title":["Recurrence of split hand\/foot malformation, cleft lip\/palate, and severe urogenital abnormalities due to germline mosaicism for <i>TP63<\/i> mutation"],"prefix":"10.1002","volume":"170","author":[{"given":"Annabelle","family":"Enriquez","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Children's Hospital at Westmead  Westmead NSW Australia"},{"name":"Discipline of Genetic Medicine University of Sydney NSW Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Krivanek","sequence":"additional","affiliation":[{"name":"Department of Histopathology Children's Hospital at Westmead Westmead NSW Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricarda","family":"Fl\u00f6ttmann","sequence":"additional","affiliation":[{"name":"Institute for Medical Genetics and Human Genetics Charit\u00e9 Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hartmut","family":"Peters","sequence":"additional","affiliation":[{"name":"Institute for Medical Genetics and Human Genetics Charit\u00e9 Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meredith","family":"Wilson","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Children's Hospital at Westmead  Westmead NSW Australia"},{"name":"Discipline of Genetic Medicine University of Sydney NSW Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,6,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20064"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2010.01131.x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35414"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1972.tb01724.x"},{"key":"e_1_2_8_6_1","first-page":"246","article-title":"EEC syndrome in two sisters with healthy parents","volume":"18","author":"Bonifazi E","year":"2008","journal-title":"Eur J Pediat Dermatol"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01547.x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10778"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81646-3"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02621"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1101"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2009.09496.x"},{"key":"e_1_2_8_13_1","first-page":"529","article-title":"The EEC syndrome and SHFM: Report of two cases and mutation analysis of p63 gene","volume":"52","author":"Ergin H","year":"2010","journal-title":"Turk J Pediatr"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.22.24.8659-8668.2002"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1976.tb04384.x"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)64387-8"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/028418518202303B04"},{"key":"e_1_2_8_18_1","first-page":"433","article-title":"Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly\u2010ectodermal dysplasia\u2010clefting syndrome (EEC)","volume":"19","author":"Janssens S","year":"2008","journal-title":"Genet Couns"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036442"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31664"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.3.221"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440617"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1086\/301687"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1973.tb01162.x"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450525"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.5.4.269"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.6.3.3796"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31271"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199604000-00003"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290116"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0007-1226(61)80036-2"},{"key":"e_1_2_8_32_1","first-page":"149","article-title":"Rapp\u2010Hodgkin syndrome: Observations on ten cases and characteristic hair changes (pili canaliculi)","volume":"24","author":"Salinas C","year":"1988","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34335"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1086\/323123"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0035337"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80275-0"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/19539"}],"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.37816","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37816","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37816","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T23:39:10Z","timestamp":1696635550000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37816"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,28]]},"references-count":36,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1002\/ajmg.a.37816"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37816","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6,28]]}}}