{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T08:11:57Z","timestamp":1783930317450,"version":"3.55.0"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T00:00:00Z","timestamp":1554940800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T00:00:00Z","timestamp":1554940800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GSP15001"],"award-info":[{"award-number":["GSP15001"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Coffin\u2013Siris syndrome (CSS) is characterized by intellectual disability, dysmorphic facial features, growth deficiency, microcephaly, and abnormalities of the fifth fingers\/toes. CSS is caused by mutations in several genes of the BRG1\u2010associated factor pathway including\n                      <jats:italic>SMARCA4.<\/jats:italic>\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Whole\u2010exome sequencing was performed on a 14\u2010year\u2010old female individual who presented with mild intellectual disability and dysmorphic features, tooth abnormalities, and short stature. She had brachydactyly but no aplasia or hypoplasia of the distal phalanx or nail of the fifth digit. She was also found to have retinal dystrophy that has not been previously reported in CSS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The individual presented herein was found to harbor a previously unreported de novo variant in\n                      <jats:italic>SMARCA4.<\/jats:italic>\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case expands the phenotypic spectrum of CSS manifestations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.682","type":"journal-article","created":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T21:54:32Z","timestamp":1555019672000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Retinal dystrophy in an individual carrying a de novo missense variant of\n                    <i>SMARCA4<\/i>"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3934-2342","authenticated-orcid":false,"given":"Gerarda","family":"Cappuccio","sequence":"first","affiliation":[{"name":"Department of Translational Medicine Federico II University Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine Pozzuoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaella","family":"Brunetti\u2010Pierri","sequence":"additional","affiliation":[{"name":"Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences University of Campania \u201cLuigi Vanvitelli\u201d Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalaura","family":"Torella","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine Pozzuoli Italy"},{"name":"Department of Precision Medicine 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