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Over 200 affected individuals have been described worldwide, though underdiagnosis is suspected because the characteristic features are variably present and affected individuals can have a mild phenotype. This case series provides a summary of the clinical and molecular characteristics of 10 Chinese KBG syndrome patients recruited from a single center. To our knowledge, this is the first case series for Chinese KBG patients. This case series aimed at exploring potential ethnicity\u2010related variability in KBG syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.62688","type":"journal-article","created":{"date-parts":[[2022,2,17]],"date-time":"2022-02-17T10:32:42Z","timestamp":1645093962000},"page":"1693-1699","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["<scp>KBG<\/scp> syndrome in a Chinese population: A case series"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4239-5752","authenticated-orcid":false,"given":"Stephanie","family":"Ho","sequence":"first","affiliation":[{"name":"Clinical Genetic Service, Department of Health HKSAR  Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4066-4066","authenticated-orcid":false,"given":"Ho\u2010Ming","family":"Luk","sequence":"additional","affiliation":[{"name":"Clinical Genetic Service, Department of Health HKSAR  Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan F. 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