{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T22:21:36Z","timestamp":1780957296340,"version":"3.54.1"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,12,24]],"date-time":"2019-12-24T00:00:00Z","timestamp":1577145600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"crossref","award":["2016YFC0901501"],"award-info":[{"award-number":["2016YFC0901501"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]},{"name":"CAMS Innovation Fund for Medical Science","award":["CAMS-2016-I2M-1-002"],"award-info":[{"award-number":["CAMS-2016-I2M-1-002"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Cornelia de Lange syndrome (CdLS) is a rare dominantly inherited developmental disorder with an estimated prevalence of 0.5\u201310:100,000 and no racial disparity in prevalence. The aim of this study was to present two unrelated Chinese CdLS individuals with mutations in <jats:italic>NIPBL<\/jats:italic> and to perform a comprehensive analysis of a Chinese cohort with CdLS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects and methods<\/jats:title><jats:p>Two unrelated Chinese patients complaining of short stature were referred to the outpatient department of Peking Union Medical College Hospital (PUMCH). Their clinical data at birth and at the most recent assessment were collected. Mutation analysis was carried out by whole exome sequencing. Twenty\u2010four Chinese cases with CdLS were identified through a systematic review of the literature published between 1987 and 2017.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two patients presented with typical phenotypes, characteristic complications of CdLS and mutations in the <jats:italic>NIPBL<\/jats:italic> gene. The average age at diagnosis of the 26 Chinese cases was higher than that of other cohorts. The frequencies of characteristic manifestations of CdLS were similar with those of other populations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>By investigating 26 Chinese cases of CdLS, we observed that the clinical data and gene variants in the Chinese cohort of CdLS patients were generally in accordance with those of other populations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1066","type":"journal-article","created":{"date-parts":[[2019,12,24]],"date-time":"2019-12-24T12:41:08Z","timestamp":1577191268000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0882-1167","authenticated-orcid":false,"given":"Shuo","family":"Li","sequence":"first","affiliation":[{"name":"Key Laboratory of Endocrinology of National Health and Family Planning Commission Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Miao","sequence":"additional","affiliation":[{"name":"Key Laboratory of Endocrinology of National Health and Family Planning Commission Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongbo","family":"Yang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Endocrinology of National Health and Family Planning Commission Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linjie","family":"Wang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Endocrinology of National Health and Family Planning Commission Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengying","family":"Gong","sequence":"additional","affiliation":[{"name":"Key Laboratory of Endocrinology of National Health and Family Planning Commission Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shi","family":"Chen","sequence":"additional","affiliation":[{"name":"Key Laboratory of Endocrinology of National Health and Family Planning Commission Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huijuan","family":"Zhu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Endocrinology of National Health and Family Planning Commission Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Pan","sequence":"additional","affiliation":[{"name":"Key Laboratory of Endocrinology of National Health and Family Planning Commission Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,12,24]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12499"},{"key":"e_1_2_10_3_1","first-page":"225","article-title":"Ein fall von symmetrischer monodaktylie durch Ulnadefekt, mit symmetrischer flughautbildung in den ellenbeugen, sowie anderen abnormitaten (zwerghaftogkeit, halsrippen, behaarung)","volume":"84","author":"Brachmann W.","year":"1916","journal-title":"Jarb Kinder Phys Erzie"},{"key":"e_1_2_10_4_1","first-page":"713","article-title":"Sur un type nouveau de degenerescence (typus Amstelodamensis)","volume":"36","author":"Lange C.","year":"1933","journal-title":"Archives of Medical Enfants"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/YCO.0000000000000311"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470703"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu002"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470722"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-018-0031-0"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01271.x"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22430"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31498"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21352"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33363"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34329"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00832.x"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36573"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms150610350"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.3969\/j.issn.1000-3606.2017.03.013"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2011.0383"}],"updated-by":[{"DOI":"10.1002\/mgg3.1225","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2020,5,3]],"date-time":"2020-05-03T00:00:00Z","timestamp":1588464000000}}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.1066","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1066","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1066","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1066","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T09:11:23Z","timestamp":1708506683000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1066"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,24]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,2]]}},"alternative-id":["10.1002\/mgg3.1066"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1066","archive":["Portico"],"relation":{"correction":[{"id-type":"doi","id":"10.1002\/mgg3.1225","asserted-by":"object"}]},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,24]]},"assertion":[{"value":"2019-01-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-11-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1066"}}