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Whole exome sequencing revealed an inactivating mutation in <jats:italic><jats:styled-content style=\"fixed-case\">GNAS<\/jats:styled-content><\/jats:italic> that was previously described as causing pseudohypoparathyroidism.<\/jats:p>","DOI":"10.1111\/pde.13879","type":"journal-article","created":{"date-parts":[[2019,6,19]],"date-time":"2019-06-19T00:02:55Z","timestamp":1560902575000},"page":"732-734","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Neonatal osteoma cutis due to a mutation in <i><scp>GNAS<\/scp><\/i>"],"prefix":"10.1111","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8603-4230","authenticated-orcid":false,"given":"Yael","family":"Levy\u2010Shraga","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology and Diabetes Unit The Edmond and Lily Safra Children's Hospital Sheba Medical Center Ramat\u2010Gan Israel"},{"name":"The Sackler Faculty of Medicine Tel\u2010Aviv University Tel\u2010Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ortal","family":"Barel","sequence":"additional","affiliation":[{"name":"The Genomic Unit Sheba Cancer Research Center Ramat\u2010Gan Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisheva","family":"Javasky","sequence":"additional","affiliation":[{"name":"The Genomic Unit Sheba Cancer Research Center Ramat\u2010Gan Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aviv","family":"Barzilai","sequence":"additional","affiliation":[{"name":"The Sackler Faculty of Medicine Tel\u2010Aviv University Tel\u2010Aviv Israel"},{"name":"Pediatric Dermatology Service The Department of Dermatology Sheba Medical Center Ramat\u2010Gan Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8308-2790","authenticated-orcid":false,"given":"Shoshana","family":"Greenberger","sequence":"additional","affiliation":[{"name":"The Sackler Faculty of Medicine Tel\u2010Aviv University Tel\u2010Aviv Israel"},{"name":"Pediatric Dermatology Service The Department of Dermatology Sheba Medical Center Ramat\u2010Gan Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,6,18]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-4164"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22696"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2018.07.011"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-16-0107"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41574-018-0042-0"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.13879","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.13879","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.13879","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.13879","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T12:03:19Z","timestamp":1694260999000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.13879"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,18]]},"references-count":5,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["10.1111\/pde.13879"],"URL":"https:\/\/doi.org\/10.1111\/pde.13879","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2019,6,18]]},"assertion":[{"value":"2019-06-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}