{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T12:17:32Z","timestamp":1762431452729},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,5,24]],"date-time":"2018-05-24T00:00:00Z","timestamp":1527120000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Kangxu medical laboratory"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2018,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cohen syndrome is a rare, genetic, connective\u2010tissue disorder, which is caused by mutations in the gene COH1 (VPS13B, Vacuolar Protein Sorting 13 Homolog B) at the chromosome 8q22. The disease is rare reported, which major clinical features include postnatal microcephaly, obesity, short stature, intellectual disability, progressive retinal dystrophy, intermittent neutropenia and many other unusual facial feature. We report four patients in China who were diagnosed with Cohen syndrome by genetic testing and clinical manifestations. At the same time, we review the related literature, and further expound the molecular mechanism of the disease, a variety of clinical manifestations, treatment and prognosis.<\/jats:p>","DOI":"10.1016\/j.ijdevneu.2018.05.004","type":"journal-article","created":{"date-parts":[[2018,5,25]],"date-time":"2018-05-25T00:22:35Z","timestamp":1527207755000},"page":"83-88","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Gene analysis: A rare gene disease of intellectual deficiency\u2010Cohen syndrome"],"prefix":"10.1002","volume":"68","author":[{"given":"Chengqing","family":"Yang","sequence":"first","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei","family":"Hou","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Qingdao Women &amp; Children Hospital No. 6 Tongfu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yutang","family":"Li","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Qingdao Women &amp; Children Hospital No. 6 Tongfu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dianrong","family":"Sun","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Qingdao Women &amp; Children Hospital No. 6 Tongfu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ya","family":"Guo","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peipei","family":"Liu","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yedan","family":"Liu","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Song","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Na","family":"Zhang","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Wei","sequence":"additional","affiliation":[{"name":"Kangso Medical Inspection Co., Ltd No.65 Haidian District, Xingshikou Road Yiyuan Cultural Creative Industry Base C District No. 10, Floor 2, 201\u2010203 Beijing 100195 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zongbo","family":"Chen","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,5,24]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80493-7"},{"issue":"5","key":"e_1_2_8_3_1","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/j.jaapos.2007.01.118","article-title":"Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features","volume":"11","author":"Mehryar Taban M.D.","year":"2007","journal-title":"J. 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