{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T04:00:40Z","timestamp":1768708840421,"version":"3.49.0"},"reference-count":14,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2018,7,28]],"date-time":"2018-07-28T00:00:00Z","timestamp":1532736000000},"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":[[2018,8]]},"abstract":"<jats:p>Coffin\u2013Siris syndrome (CSS) is a rare intellectual disability syndrome classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and other digits, distinctive facial features, hirsutism\/hypertrichosis, and sparce scalp hair. It is genetically heterogeneous but most often caused by a pathogenic variant in the ARID1B gene. Previous clinical reports of CSS patients are mainly based on young or middle\u2010aged individuals. Here, we report a 69\u2010year\u2010old woman with CSS phenotype and a pathogenic ARID1B loss\u2010of\u2010function variant c.5259_5260dup. She has severe intellectual disability but otherwise she is in relatively good health both physically and mentally. There is no evident history of chronic illness or progressive disability. CSS appears to be compatible with long survival and most likely it is underdiagnosed in geriatric patients with intellectual disability.<\/jats:p>","DOI":"10.1002\/ajmg.a.38844","type":"journal-article","created":{"date-parts":[[2018,7,29]],"date-time":"2018-07-29T07:26:19Z","timestamp":1532849179000},"page":"1764-1767","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A 69\u2010year\u2010old woman with Coffin\u2013Siris syndrome"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5659-9751","authenticated-orcid":false,"given":"Laura","family":"M\u00e4\u00e4tt\u00e4nen","sequence":"first","affiliation":[{"name":"Department of Public Health Turku Clinical Research Centre, University of Turku Turku Finland"},{"name":"Departments of Child Neurology, University of Turku  Finland"},{"name":"Southwest Special Care Municipal Authority Paimio Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marja","family":"Hietala","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Turku University Hospital, Institute of Biomedicine, University of Turku Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaakko","family":"Ignatius","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Turku University Hospital, Institute of Biomedicine, University of Turku Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Arvio","sequence":"additional","affiliation":[{"name":"Departments of Child Neurology, University of Turku  Finland"},{"name":"Southwest Special Care Municipal Authority Paimio Finland"},{"name":"Department of Neurology, P\u00e4ij\u00e4t\u2010H\u00e4me Joint Municipal Authority Lahti Finland"},{"name":"PEDEGO, Oulu University Hospital Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,7,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2788.2003.00447.x"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37672"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01755.x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31415"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.10.1913"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200404000-00006"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22394"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31414"},{"key":"e_1_2_8_10_1","volume-title":"GeneReviews\u00ae","author":"Schrier Vergano S.","year":"2016"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.5582\/irdr.2014.01040"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.01.014"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31411"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt366"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38143"}],"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.38844","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38844","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,18]],"date-time":"2023-09-18T02:36:27Z","timestamp":1695004587000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38844"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,28]]},"references-count":14,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2018,8]]}},"alternative-id":["10.1002\/ajmg.a.38844"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38844","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7,28]]},"assertion":[{"value":"2018-01-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-04-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-07-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}