Diagnostic analysis of the Rubinstein-Taybi syndrome: Five cosmids should be used for microdeletion detection and low number of protein truncating mutations

Fred Petrij, Arie Van Haeringen, Jack H. Rubinstein, Howard M. Saal, Raoul C.M. Hennekam, Dorien J.M. Peters*, Martijn H. Breuning, Hans G. Dauwerse, Ruthann I. Blough, Rachel H. Giles, Jasper J. Van der Smagt, Robert Wallerstein, Petra D. Maaswinkel-Mooy, Clara D. Van Karnebeek, Gert B. Van Ommen

*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

102 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology