{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T02:41:06Z","timestamp":1785552066684,"version":"3.56.0"},"reference-count":26,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2014,7,11]],"date-time":"2014-07-11T00:00:00Z","timestamp":1405036800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"University of Utah Clinical Genetics Research Program: Phenotyping Core (CGRP)"},{"DOI":"10.13039\/100000097","name":"National Center for Research Resources","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000097","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["UL1RR025764"],"award-info":[{"award-number":["UL1RR025764"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>oltz syndrome, also known as focal dermal hypoplasia, is characterized primarily by ectodermal and mesodermal defects. Manifestations include cutis aplasia, dermal hypoplasia, papillomas, chorioretinal colobomas, absent\/dysplastic teeth, and skeletal anomalies. <jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>oltz syndrome is an X\u2010linked disorder due to mutations in <jats:styled-content style=\"fixed-case\"><jats:italic>PORCN<\/jats:italic><\/jats:styled-content>, with a predominance of females affected. Germline mutations in <jats:styled-content style=\"fixed-case\"><jats:italic>PORCN<\/jats:italic><\/jats:styled-content> are thought to result in embryonically lethality in males. We present a boy with a phenotype consistent with <jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>oltz syndrome with low\u2010level mosaicism for a novel mutation in <jats:italic><jats:styled-content style=\"fixed-case\">PORCN<\/jats:styled-content><\/jats:italic> from peripheral blood (c.956dup<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>; p.Asn320<jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>lufs<jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>99).<\/jats:p>","DOI":"10.1111\/ijd.12605","type":"journal-article","created":{"date-parts":[[2014,7,11]],"date-time":"2014-07-11T08:18:15Z","timestamp":1405066695000},"page":"1481-1484","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Goltz syndrome and <i>PORCN<\/i> mosaicism"],"prefix":"10.1111","volume":"53","author":[{"given":"David A.","family":"Stevenson","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Utah Salt Lake City UT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meghan","family":"Chirpich","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Utah Salt Lake City UT USA"},{"name":"Intermountain Healthcare Salt Lake City UT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne","family":"Contreras","sequence":"additional","affiliation":[{"name":"Intermountain Healthcare Salt Lake City UT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Hanson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Utah Salt Lake City UT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Dent","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Utah Salt Lake City UT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,7,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1962.01590120006002"},{"key":"e_1_2_6_3_1","first-page":"421","article-title":"Focal dermal hypoplasia syndrome","volume":"43","author":"Gorlin RJ","year":"1963","journal-title":"Acta Derm Venereol"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.068403"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2009.04077.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2052"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2057"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12031"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(81)70027-6"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400317"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(91)70274-6"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1080\/000155501750376410"},{"key":"e_1_2_6_13_1","first-page":"829","article-title":"Unilateral Goltz syndrome in a boy","volume":"111","author":"Stalder JF","year":"1984","journal-title":"Ann Dermatol Venereol"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20992"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2010.03782.x"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2010.01209.x"},{"key":"e_1_2_6_17_1","first-page":"41","article-title":"Aplasia cutis congenital associated with Goltz syndrome in a male neonate","volume":"21","author":"Gnamey DK","year":"2010","journal-title":"Genet Couns"},{"key":"e_1_2_6_18_1","first-page":"263","article-title":"Goltz's syndrome","volume":"123","author":"Ferrara A","year":"1972","journal-title":"Am J Dis Child"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb00336.x"},{"key":"e_1_2_6_20_1","first-page":"554","article-title":"Focal dermal hypoplasia (Goltz syndrome) in a male. A case report","volume":"50","author":"Feinberg A","year":"1976","journal-title":"S Afr Med J"},{"key":"e_1_2_6_21_1","first-page":"232","article-title":"Focal dermal hypoplasia","volume":"69","author":"Staughton RC","year":"1976","journal-title":"Proc R Soc Med"},{"key":"e_1_2_6_22_1","first-page":"37","article-title":"Focal dermal hypoplasia (Goltz syndrome) in a male","volume":"31","author":"Fryns JP","year":"1978","journal-title":"Acta Paediatr Belg"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4362.1979.tb04471.x"},{"key":"e_1_2_6_24_1","doi-asserted-by":"crossref","first-page":"314","DOI":"10.3928\/0191-3913-19821101-08","article-title":"Focal dermal hypoplasia: ocular manifestations in a male","volume":"19","author":"Broughton WL","year":"1982","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(83)70157-X"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1992.01680180072008"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200210000-00009"}],"container-title":["International Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fijd.12605","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ijd.12605","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T08:00:56Z","timestamp":1696406456000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ijd.12605"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7,11]]},"references-count":26,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["10.1111\/ijd.12605"],"URL":"https:\/\/doi.org\/10.1111\/ijd.12605","archive":["Portico"],"relation":{},"ISSN":["0011-9059","1365-4632"],"issn-type":[{"value":"0011-9059","type":"print"},{"value":"1365-4632","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,7,11]]},"assertion":[{"value":"2014-07-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}