Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes
Julie M Schultz, Rashid Bhatti, Anne C Madeo, Amy Turriff, Julie A Muskett, Christopher K Zalewski, Kelly A King, Zubair M Ahmed, Saima Riazuddin, Nazir Ahmad, Zawar Hussain, Muhammad Qasim, Shaheen N Kahn, Meira R Meltzer, Xue Z Liu, Murali Munisamy, Manju Ghosh, Heidi L Rehm, Ekaterini T Tsilou, Andrew J Griffith, Wadih M Zein, Carmen C Brewer, Sheikh Riazuddin, Thomas B Friedman
Journal of Medical Genetics Nov 2011, 48 (11) 767-775; DOI: 10.1136/jmedgenet-2011-100262