Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.
Petrij F, Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJ, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RC, Peters DJ, Breuning MH.
Petrij F, et al. Among authors: van karnebeek cd, van haeringen a, van ommen gj, van der smagt jj.
J Med Genet. 2000 Mar;37(3):168-76. doi: 10.1136/jmg.37.3.168.
J Med Genet. 2000.
PMID: 10699051
Free PMC article.