CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
- Creator: Hackett, Anna , Tarpey, Patrick S. , Tolmie, John , Yates, John R. W. , Turner, Gillian , WIlson, Meredith , Futreal, Andrew P. , Corbett, Mark , Shaw, Marie , Gecz, Jozef , Raymond, F. Lucy , Stratton, Micahel R. , Licata, Andrea , Schwartz, Charles E. , Abidi, Fatima E. , Cox, James , Whibley, Annabel , Boyle, Jackie , Rogers, Carolyn , Grigg, John , Partington, Michael , Stevenson, Roger E.
- Resource Type: journal article
- Date: 2010
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
- Creator: Frints, Suzanna Gerarda Maria , Lenzner, Steffen , Turner, Gillian , Bauters, Mareike , Jensen, Lars Riff , Van Esch, Hilde , des Portes, Vincent , Moog, Ute , Macville, Merryn Victor Erik , van Roozendaal, Kees , Schrander-Stumpel, Constance Theresia Rimbertha Maria
- Resource Type: journal article
- Date: 2008