{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T23:55:46Z","timestamp":1790812546047,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,11,17]],"date-time":"2017-11-17T00:00:00Z","timestamp":1510876800000},"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":[[2018,1]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Wieacker\u2013Wolff syndrome is a rare congenital syndrome with few reported cases in the current literature. It is traditionally described in males as an X\u2010linked recessive disorder associated with congenital contractures of the feet, progressive neurologic muscular atrophy, and intellectual delay caused by\n                      <jats:italic>ZC4H2<\/jats:italic>\n                      mutations. The purpose of this paper is to present a female individual with a classic phenotype and cleft palate, a previously undescribed finding in this syndrome. Recent reports have demonstrated that females are rarely severely affected and phenotypic expression is difficult to predict [Zanzottera et al. (\n                      <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#ajmga38527-bib-0009\"\/>\n                      ); American Journal of Medical Genetics Part A 173A: 1358\u20131363]. This case supports the unpredictability of Wieacker\u2013Wolff syndrome severity and prompts future questions regarding female mutations and phenotypic expression.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.38527","type":"journal-article","created":{"date-parts":[[2017,11,17]],"date-time":"2017-11-17T21:29:16Z","timestamp":1510954156000},"page":"167-170","source":"Crossref","is-referenced-by-count":19,"title":["Wieacker\u2013Wolff syndrome with associated cleft palate in a female case"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3494-5331","authenticated-orcid":false,"given":"Natalie D.","family":"Godfrey","sequence":"first","affiliation":[{"name":"Division of Plastic Surgery University of Massachusetts Medical Center Worcester Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samandar","family":"Dowlatshahi","sequence":"additional","affiliation":[{"name":"Division of Plastic Surgery University of Massachusetts Medical Center Worcester Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madelena M.","family":"Martin","sequence":"additional","affiliation":[{"name":"Division of Genetics University of Massachusetts Medical Center Worcester Massachusetts"},{"name":"Department of Pediatrics Division of Genetics UC Davis Medical Center Sacramento California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas M.","family":"Rothkopf","sequence":"additional","affiliation":[{"name":"Division of Plastic Surgery University of Massachusetts Medical Center Worcester Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,11,17]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.03.021"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2011.09.027"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01905.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050528"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv208"},{"key":"e_1_2_5_7_1","doi-asserted-by":"crossref","unstructured":"OMIM #314580:http:\/\/omim.org\/clinicalsynopsis\/314580?search=&highlight=wieackerwolff1\/2015.","DOI":"10.1002\/9783527678679.dg08886"},{"key":"e_1_2_5_8_1","unstructured":"ORPHA3454:http:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?lng=EN%26Expert=3454.1\/2015."},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200405"},{"issue":"1","key":"e_1_2_5_10_1","doi-asserted-by":"crossref","first-page":"1358","DOI":"10.1002\/ajmg.a.38155","article-title":"ZC4H2 deletions can cause severe phenotype in female carriers","volume":"173","author":"Zanzottera C.","year":"2017","journal-title":"American Journal of Medical Genetics Part A"}],"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.38527","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38527","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T06:45:29Z","timestamp":1695969929000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38527"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,17]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1002\/ajmg.a.38527"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38527","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,11,17]]}}}