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Autor:
J. L. M. Strengers, Raoul C.M. Hennekam, E. J. P. Lommen, H. G. Van Spijker, T. M. G. Jansen-Kokx
Publikováno v:
European journal of pediatrics, 148(5), 439-441. Springer Verlag
The Rubinstein-Taybi syndrome is a condition characterized by mental retardation, typical facial changes and broad thumbs and big toes. The cause is unknown; almost all cases are sporadic. We describe a mother and son with Rubinstein-Taybi syndrome.