Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

@article{Isrie2012HaploinsufficiencyOA,
  title={Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms},
  author={Mala Isrie and Yvonne M. C. Hendriks and Nicole Gielissen and Erik A Sistermans and Marjolein H. Willemsen and Hilde Peeters and Joris Robert Vermeesch and Tjitske Kleefstra and Hilde van Esch},
  journal={European Journal of Human Genetics},
  year={2012},
  volume={20},
  pages={131-133}
}
Last year, in this journal, Willemsen et al1,2 presented four patients with an interstitial deletion of chromosome band 16q24.3. The overlapping phenotypical features provided evidence for a novel microdeletion syndrome characterized by variable levels of intellectual disability, autistic features (ASD) and facial dysmorphisms. The shortest region of deletion overlap shared by these patients contained two potential candidate genes, ANKRD11 and ZNF778. Here, we present two patients with… CONTINUE READING