{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T06:05:58Z","timestamp":1789193158635,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,4,30]],"date-time":"2015-04-30T00:00:00Z","timestamp":1430352000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"crossref","award":["30389283"],"award-info":[{"award-number":["30389283"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"crossref","award":["13313587"],"award-info":[{"award-number":["13313587"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"crossref","award":["21591338"],"award-info":[{"award-number":["21591338"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology of Japan","doi-asserted-by":"crossref","award":["11105137"],"award-info":[{"award-number":["11105137"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology of Japan","doi-asserted-by":"crossref","award":["12024421"],"award-info":[{"award-number":["12024421"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Applying Health Technology","award":["12944231"],"award-info":[{"award-number":["12944231"]}]},{"name":"Comprehensive Research on Disability Health and Welfare","award":["13802019"],"award-info":[{"award-number":["13802019"]}]},{"name":"Research on Intractable Diseases","award":["21-110"],"award-info":[{"award-number":["21-110"]}]},{"name":"Research on Intractable Diseases","award":["22-133"],"award-info":[{"award-number":["22-133"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Rett syndrome (RTT) is a neurodevelopmental disorder predominantly affecting females. Females with the <jats:italic>MECP2<\/jats:italic> mutations exhibit a broad spectrum of clinical manifestations ranging from classical Rett syndrome to asymptomatic carriers. Mutations of genes encoding cyclin\u2010dependent kinase\u2010like 5 (<jats:italic>CDKL5<\/jats:italic>) and forkhead box G1 (<jats:italic>FOXG1<\/jats:italic>) are also found in early onset RTT variants. Here, we present the first report of a female patient with RTT\u2010like phenotype caused by <jats:italic>SHANK3<\/jats:italic> (SH3 and multiple ankylin repeat domain 3) mutation, indicating that the clinical spectrum of <jats:italic>SHANK3<\/jats:italic> mutations may extend to RTT\u2010like phenotype in addition to (severe) developmental delay, absence of expressive speech, autistic behaviors and intellectual disability. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36775","type":"journal-article","created":{"date-parts":[[2015,4,30]],"date-time":"2015-04-30T16:35:22Z","timestamp":1430411722000},"page":"1593-1596","source":"Crossref","is-referenced-by-count":28,"title":["De novo <i>SHANK3<\/i> mutation causes Rett syndrome\u2010like phenotype in a female patient"],"prefix":"10.1002","volume":"167","author":[{"given":"Munetsugu","family":"Hara","sequence":"first","affiliation":[{"name":"Department of Neonatology Medical Center for Maternal and Child Health St. Mary's Hospital Kurume Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chihiro","family":"Ohba","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Medicine Yokohama City University Kanazawa\u2010ku Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yushiro","family":"Yamashita","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Child Health Kurume University School of Medicine Kurume Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Medicine Yokohama City University Kanazawa\u2010ku Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Medicine Yokohama City University Kanazawa\u2010ku Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toyojiro","family":"Matsuishi","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Child Health Kurume University School of Medicine Kurume Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,4,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/2040-2392-4-17"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.175"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/321293"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09582"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1933"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410140412"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcibr1104261"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22124"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/1073858403260995"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/301857"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09965"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22154"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2562"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000337637"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2012.05.013"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/jnc.12505"}],"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.36775","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36775","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T15:51:21Z","timestamp":1696607481000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36775"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,30]]},"references-count":17,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2015,7]]}},"alternative-id":["10.1002\/ajmg.a.36775"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36775","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,30]]}}}