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Characteristic facial dysmorphic features include downslanting palpebral fissures, low hanging columella. RSTS is caused by pathogenic variants in two ubiquitously expressed and highly homologous genes, <jats:italic>CREBBP<\/jats:italic> (OMIM*600140) and <jats:italic>EP300<\/jats:italic> (OMIM*600140). Clinical features were well reported especially in Caucasian ethnicity. We would like to report the clinical phenotype of RSTS in our Chinese population and highlight four novel mutations in <jats:italic>CREBBP<\/jats:italic> gene.<\/jats:p>","DOI":"10.1002\/ajmg.a.61922","type":"journal-article","created":{"date-parts":[[2020,10,16]],"date-time":"2020-10-16T11:38:04Z","timestamp":1602848284000},"page":"267-273","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["<scp>Rubinstein\u2010Taybi<\/scp> syndrome in Chinese population with four novel mutations"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9360-6145","authenticated-orcid":false,"given":"Pui Tak","family":"Yu","sequence":"first","affiliation":[{"name":"Clinical Genetic Service Department of Health  Kowloon 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  Kowloon Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan F. 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