Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

@article{Delphin2012IntellectualDA,
  title={Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?},
  author={Nathalie Delphin and Sylvain Hanein and Lucas Fares Taie and Xavier Zanlonghi and D. Bonneau and Jean-Paul Moisan and Christine Boyle and Patrick Linsel Nitschke and Solenn Pruvost and J L Bonnefont and Arnold Munnich and Olivier Roche and Josseline Kaplan and J. -M. Rozet},
  journal={European Journal of Human Genetics},
  year={2012},
  volume={20},
  pages={352-356}
}
X-linked retinal dystrophies (XLRD) are listed among the most severe RD owing to their early onset, leading to significant visual loss before the age of 30. One-third of XLRD are accounted for by RP2 mutations at the Xp11.23 locus. Deletions of ca. 1.2 Mb in the Xp11.3-p11.23 region have been previously reported in two independent families segregating XLRD… CONTINUE READING