Article
Rubinstein-Taybi syndrome in diverse populations.
American journal of medical genetics. Part A - 1 Dec 2020
Tekendo-Ngongang Cedrik, Owosela Babajide, Fleischer Nicole, Addissie Yonit A, Malonga Bryan, Badoe Ebenezer, Gupta Neerja, Moresco Angélica, Huckstadt Victoria, Ashaat Engy A, Hussen Dalia Farouk, Luk Ho-Ming, Lo Ivan F M, Hon-Yin Chung Brian, Fung Jasmine L F, Moretti-Ferreira Danilo, Batista Letícia Cassimiro, Lotz-Esquivel Stephanie, Saborio-Rocafort Manuel, Badilla-Porras Ramses, Penon Portmann Monica, Jones Kelly L, Abdul-Rahman Omar A, Uwineza Annette, Prijoles Eloise J, Ifeorah Ifeanyi Kanayo, Llamos Paneque Arianne, Sirisena Nirmala D, Dowsett Leah, Lee Sansan, Cappuccio Gerarda, Kitchin Carolyn Sian, Diaz-Kuan Alicia, Thong Meow-Keong, Obregon María Gabriela, Mutesa Leon, Dissanayake Vajira H W, El Ruby Mona O, Brunetti-Pierri Nicola, Ekure Ekanem Nsikak, Stevenson Roger E, Muenke Maximilian, Kruszka Paul
Abstract excerpt
Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations. In this study, individuals from diverse populations with...
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