{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T19:13:41Z","timestamp":1783970021517,"version":"3.55.0"},"reference-count":17,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,4,3]],"date-time":"2014-04-03T00:00:00Z","timestamp":1396483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"NIH"},{"name":"Child & Family Research Institute (C.F.B.)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Coffin\u2010Siris Syndrome (CSS) is an intellectual disability disorder caused by mutation of components of the SWI\/SNF chromatin\u2010remodeling complex. We describe the evolution of the phenotypic features for a male patient with CSS from birth to age 7 years and 9 months and by review of reported CSS patients, we expand the phenotype to include neonatal and infantile hypertonia and upper airway obstruction. The propositus had a novel de novo heterozygous missense mutation in exon 17 of <jats:italic>SMARCA4<\/jats:italic> (NM_001128849.1:c.2434C&gt;T (NP_001122321.1:p.Leu812Phe)). This is the first reported mutation within motif Ia of the SMARCA4 SNF2 domain. In summary, <jats:italic>SMARCA4<\/jats:italic>\u2010associated CSS is a pleiotropic disorder in which the pathognomic clinical features evolve and for which the few reported individuals do not demonstrate a clear genotype\u2013phenotype correlation. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36533","type":"journal-article","created":{"date-parts":[[2014,4,3]],"date-time":"2014-04-03T20:28:29Z","timestamp":1396556909000},"page":"1808-1814","source":"Crossref","is-referenced-by-count":9,"title":["Coffin\u2010Siris syndrome: Phenotypic evolution of a novel <i>SMARCA4<\/i> mutation"],"prefix":"10.1002","volume":"164","author":[{"given":"Michael","family":"Tzeng","sequence":"first","affiliation":[{"name":"NIH Undiagnosed Diseases Program Common Fund NIH Office of the Director and NHGRI Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christ\u00e8le","family":"du Souich","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia Vancouver British Columbia Canada"},{"name":"Child and Family Research Institute Children's and Women's Health Centre of British Columbia Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen Wing\u2010Hong","family":"Cheung","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program Common Fund NIH Office of the Director and NHGRI Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelius F.","family":"Boerkoel","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program Common Fund NIH Office of the Director and NHGRI Bethesda Maryland"},{"name":"Department of Medical Genetics University of British Columbia Vancouver British Columbia Canada"},{"name":"Child and Family Research Institute Children's and Women's Health Centre of British Columbia Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,4,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11247"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.10.8.905"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35933"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature07107"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature06008"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.emboj.7601291"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08781"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2013.227"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22394"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.4161\/epi.22299"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35415"},{"key":"e_1_2_6_13_1","volume-title":"GeneReviews\u2122 [Internet]","author":"Schrier Vergano S","year":"2013"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.14.5880-5892.2005"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32956"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(00)02060-6"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2219"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1105"}],"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.36533","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36533","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36533","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T23:33:09Z","timestamp":1696548789000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36533"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,3]]},"references-count":17,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["10.1002\/ajmg.a.36533"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36533","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,3]]}}}