{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T06:00:31Z","timestamp":1769234431028,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2007,4,12]],"date-time":"2007-04-12T00:00:00Z","timestamp":1176336000000},"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":[[2007,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on two unrelated families with EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft lip\/palate), each with an Arg227Gln <jats:italic>TP63<\/jats:italic> gene mutation, where the phenotype overlapped extensively with the allelic disorder, limb\u2010mammary syndrome (LMS). Features common to both families were an ectodermal dysplasia principally affecting tooth, breast and nipple development, dacryostenosis and severe micturition difficulties. Additional findings included post\u2010axial digital hypoplasia, cleft uvula, anal stenosis, hypoplasia of the perineal body and biopsy\u2010proven interstitial cystitis. No individual had cleft lip. Split hand\u2010split foot malformation (SHFM) occurred in one child\u2014born after the molecular diagnosis was established. Unlike previous reports, the urinary symptoms were refractory to treatment with oral Fibrase and persisted into adulthood. Of the six cases\/families now reported with EEC syndrome and Arg227Gln <jats:italic>TP63<\/jats:italic> mutation, four have manifested this distinct urological abnormality, indicative of a genotype\u2010phenotype correlation. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31664","type":"journal-article","created":{"date-parts":[[2007,4,13]],"date-time":"2007-04-13T02:19:40Z","timestamp":1176430780000},"page":"1114-1119","source":"Crossref","is-referenced-by-count":17,"title":["EEC syndrome, Arg227Gln <i>TP63<\/i> mutation and micturition difficulties: Is there a genotype\u2013phenotype correlation?"],"prefix":"10.1002","volume":"143A","author":[{"given":"Kenneth","family":"Maclean","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen A.","family":"Holme","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Gilmour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heide","family":"Scheffer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Graf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grahame H.H.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ella","family":"Onikul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans","family":"van Bokhoven","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Celia","family":"Moss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lesley C.","family":"Ad\u00e8s","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,4,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.8.559"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201004"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.6.377"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81646-3"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)64387-8"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0094-0143(02)00055-1"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960614)63:3<472::AID-AJMG11>3.0.CO;2-J"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/301687"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199604000-00003"},{"key":"e_1_2_7_11_1","first-page":"139","article-title":"Familial ectodermal dysplasia with agenesis of the breasts and the external urethral sphincter. Description of a case","volume":"45","author":"Triolo O","year":"1993","journal-title":"Min Ginecol"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/341450"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/323123"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02872.x"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0302-2838(02)00363-9"},{"key":"e_1_2_7_16_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.31664","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31664","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:31:32Z","timestamp":1697603492000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31664"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,4,12]]},"references-count":15,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2007,5,15]]}},"alternative-id":["10.1002\/ajmg.a.31664"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31664","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,4,12]]}}}