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Thienpont B, Bena F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong C-, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns J-, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K. Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. Journal of Medical Genetics. 2009 Oct 14;47(3):155–61. doi: 10.1136/jmg.2009.070573. |