Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. by Ng, D, Thakker, N, Corcoran, C, Donnai, D, Perveen, R, Schneider, A, Hadley, D, Tifft, C, Zhang, L, Wilkie, A, van der Smagt, J, Gorlin, R, Burgess, S, Bardwell, V, Black, G, Biesecker, L

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. by Robertson, S, Twigg, SR, Sutherland-Smith, A, Biancalana, V, Gorlin, R, Horn, D, Kenwrick, S, Kim, C, Morava, E, Newbury-Ecob, R, Orstavik, K, Quarrell, O, Schwartz, C, Shears, D, Suri, M, Kendrick-Jones, J, Wilkie, A