Article
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
American journal of medical genetics. Part A - 1 Oct 2016
Menke Leonie A, van Belzen Martine J, Alders Marielle, Cristofoli Francesca, Ehmke Nadja, Fergelot Patricia, Foster Alison, Gerkes Erica H, Hoffer Mariëtte J V, Horn Denise, Kant Sarina G, Lacombe Didier, Leon Eyby, Maas Saskia M, Melis Daniela, Muto Valentina, Park Soo-Mi, Peeters Hilde, Peters Dorien J M, Pfundt Rolph, van Ravenswaaij-Arts Conny M A, Tartaglia Marco, Hennekam Raoul C M
Abstract excerpt
Mutations in CREBBP cause Rubinstein-Taybi syndrome. By using exome sequencing, and by using Sanger in one patient, CREBBP mutations were detected in 11 patients who did not, or only in a very limited manner, resemble Rubinstein-Taybi syndrome. The combined facial signs typical for Rubinstein-Taybi syndrome were absent, none had broad thumbs, and three had only somewhat broad halluces. All had apparent...
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