{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T10:42:12Z","timestamp":1790505732475,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T00:00:00Z","timestamp":1636416000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Turnpenny\u2010Fry syndrome is a very rare genetic disorder characterized by intellectual disability, developmental delay, facial dysmorphism, and skeletal abnormalities. Mutations of the <jats:italic>PCGF2<\/jats:italic> gene are responsible for Turnpenny\u2010Fry syndrome. This gene encodes the polycomb group ring finger 2 protein that is broadly expressed in various human tissues. To date, only 13 patients with Turnpenny\u2010Fry syndrome have been reported. Our patient was referred to our clinic for neuromotor retardation and dysmorphic features. Whole exome sequencing (WES) was performed from the peripheral blood sample of the patient. WES revealed a heterozygous mutation in the <jats:italic>PCGF2<\/jats:italic> gene. To the best of our knowledge, we reported the 14th patient with Turnpenny\u2010Fry syndrome and the first from Turkey, who had new findings.<\/jats:p>","DOI":"10.1002\/ajmg.a.62560","type":"journal-article","created":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T08:24:46Z","timestamp":1636446286000},"page":"688-691","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A new case of <scp>Turnpenny\u2010Fry<\/scp> syndrome"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7791-0115","authenticated-orcid":false,"given":"Pelin","family":"Ercoskun","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Ataturk University  Erzurum Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1957-9596","authenticated-orcid":false,"given":"Cigdem","family":"Yuce Kahraman","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Ataturk University  Erzurum Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K\u00fcbra","family":"Adanur Saglam","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Ataturk University  Erzurum Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1385-653X","authenticated-orcid":false,"given":"Momen","family":"Kanjee","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Ataturk University  Erzurum Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7273-1679","authenticated-orcid":false,"given":"Abdulgani","family":"Tatar","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Ataturk University  Erzurum Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,11,9]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.1500737"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature14135"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pop.2015.05.006"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e06-05-0447"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0378-1119(93)90275-8"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2948"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2015.08.009"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2011.174"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.09.012"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62560","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62560","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62560","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T23:07:38Z","timestamp":1693004858000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62560"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,9]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,2]]}},"alternative-id":["10.1002\/ajmg.a.62560"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62560","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,9]]},"assertion":[{"value":"2021-07-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-10-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}