{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T23:12:00Z","timestamp":1773702720456,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,4,10]],"date-time":"2017-04-10T00:00:00Z","timestamp":1491782400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,6]]},"abstract":"We identified a novel mutation in ASH1L<\/jats:italic> in a patient with severe intellectual disability, growth failure, microcephaly, facial dysmorphism, myelination delay, and skeletal abnormalities. ASH1L is a histone methyltransferase that associates with the transcribed region of all active genes examined, including Hox<\/jats:italic> genes. It catalyzes H3K36 methylation and plays important roles in development. There has been increasing evidence that heterozygous mutation of ASH1L<\/jats:italic> is associated with ID and autism spectrum disorders. We suggest that ASH1L<\/jats:italic> abnormalities may cause a novel MCA\/ID syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38193","type":"journal-article","created":{"date-parts":[[2017,4,10]],"date-time":"2017-04-10T13:13:13Z","timestamp":1491829993000},"page":"1644-1648","source":"Crossref","is-referenced-by-count":41,"title":["Novel MCA\/ID syndrome with ASH1L<\/i> mutation"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5415-656X","authenticated-orcid":false,"given":"Nobuhiko","family":"Okamoto","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Osaka Medical Center and Research Institute for Maternal and Child Health Osaka Japan"},{"name":"Department of Molecular Medicine Osaka Medical Center and Research Institute for Maternal and Child Health Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuyuki","family":"Miya","sequence":"additional","affiliation":[{"name":"Department of Medical Science Mathematics, Medical Research Institute Tokyo Medical and Dental University Tokyo Japan"},{"name":"Laboratory for Medical Science Mathematics Center for Integrative Medical Sciences RIKEN Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuhiko","family":"Tsunoda","sequence":"additional","affiliation":[{"name":"Department of Medical Science Mathematics, Medical Research Institute Tokyo Medical and Dental University Tokyo Japan"},{"name":"Laboratory for Medical Science Mathematics Center for Integrative Medical Sciences RIKEN Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Showa University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinji","family":"Saitoh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neonatology Nagoya City University Graduate School of Medical Sciences Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mami","family":"Yamasaki","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurosurgery Takatsuki General Hospital Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yonehiro","family":"Kanemura","sequence":"additional","affiliation":[{"name":"Division of Regenerative Medicine Institute for Clinical Research, Osaka National Hospital, National Hospital Organization Osaka Japan"},{"name":"Department of Neurosurgery Osaka National Hospital National Hospital Organization Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,4,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.203380"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1095\/biolreprod.115.131516"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1206524"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13772"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00993-07"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22901"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003897"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.80"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms13316"}],"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.38193","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38193","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T11:10:12Z","timestamp":1696590612000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38193"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,10]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["10.1002\/ajmg.a.38193"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38193","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,10]]}}}