title: Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation.
authors.affiliation: Genetic Research Centre, National Institute for Research in Reproductive Health, Parel (East), Mumbai, 400012, India. paragtmd@gmail.com.
authors.forename: Parag M
authors.initials: PM
authors.lastname: Tamhankar
authors.affiliation: Department of Pediatrics, Nanavati Super Specialty Hospital, Mumbai, India.
authors.forename: Rashid
authors.initials: R
authors.lastname: Merchant
authors.affiliation: Department of Pediatrics, Nanavati Super Specialty Hospital, Mumbai, India.
authors.forename: Ami
authors.initials: A
authors.lastname: Shah
mesh_terms: D002648:Child; D050881:E1A-Associated p300 Protein / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007194:India; D009154:Mutation; D019683:Penetrance; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology
chemical_list: D050881:E1A-Associated p300 Protein; C494360:EP300 protein, human