Williams Beuren syndrome

Tassabehji M. Williams-Beuren syndrome a challenge for genotype-phenotype correlations. Hum Mol Genet 2003 12(2) R229-R237. [Pg.631]

Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, Scherer SW. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 2001 29(3) 321-325. [Pg.632]

Stevens, R., H. J. Tipney, C. J. Wroe, T. M. Oinn, M. Senger, R W. Lord, C. A. Goble, A. Brass, and M. Tassabehji. 2004. Exploring Williams-Beuren Syndrome Using myGrid. Bioinformatics 20 303-10. [Pg.480]

There are several FKBP genes reported to have a defective function in inherited diseases, such as the Williams Beuren syndrome (Williams syndrome) and Leber s congenital amaurosis for FKBP36 (FKBP6) and FKBP44 (AIPL1) mutations, respectively [97-99],... [Pg.208]

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