{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T04:25:34Z","timestamp":1781065534310,"version":"3.54.1"},"reference-count":11,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T00:00:00Z","timestamp":1387411200000},"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":[[2014,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Focal dermal hypoplasia (FDH; Goltz\u2013Gorlin syndrome) is an X\u2010linked dominant disorder affecting mainly tissues of ectodermal and mesodermal origin. The phenotype is characterized by hypoplastic linear skin lesions, eye malformations, hair and teeth anomalies, and multiple limbs malformations. The disorder is caused by <jats:italic>PORCN<\/jats:italic> mutations. Here we describe a mother and daughter with FDH in whom a c.938T&gt;G in <jats:italic>PORCN<\/jats:italic> was detected. Neither of the two had FDH, but otherwise the phenotype was classical. Focal skin hypoplasia is a hallmark of FDH but the present family indicates that FDH should also be considered in absence of this skin manifestation. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36341","type":"journal-article","created":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T20:16:24Z","timestamp":1387484184000},"page":"778-781","source":"Crossref","is-referenced-by-count":9,"title":["Focal dermal hypoplasia without focal dermal hypoplasia"],"prefix":"10.1002","volume":"164","author":[{"given":"Silvina N.","family":"Contreras\u2010Capetillo","sequence":"first","affiliation":[{"name":"Departamento de Gen\u00e9tica Centro de Investigaciones Regionales Dr. Hideyo Noguchi M\u00e9rida Yucat\u00e1n, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Paola","family":"Lombardi","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Academic Medical Center University of Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doris","family":"Pinto\u2010Escalante","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica Centro de Investigaciones Regionales Dr. Hideyo Noguchi M\u00e9rida Yucat\u00e1n, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul C.","family":"Hennekam","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Academic Medical Center University of Amsterdam The Netherlands"},{"name":"Department of Pediatrics, Academic Medical Center University of Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,12,19]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"59","article-title":"Possible examples of the Goltz syndrome (focal dermal hypoplasia) without linear areas of skin hypoplasia","volume":"18","author":"Aym\u00e9 S","year":"1982","journal-title":"Birth defects Orig Artic Ser"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1990.tb01034.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1962.01590120006002"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2052"},{"key":"e_1_2_5_6_1","first-page":"1452","volume-title":"Gorlin's syndromes of the head and neck","author":"Hennekam RC","year":"2010"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1995.tb06941.x"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21505"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.068403"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb00628.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.3.180"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2057"}],"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.36341","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36341","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T20:10:03Z","timestamp":1696623003000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36341"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,19]]},"references-count":11,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["10.1002\/ajmg.a.36341"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36341","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,19]]}}}