Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.

@article{HaronyNicolas2015PhelanMS,
  title={Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.},
  author={Hala Harony-Nicolas and Silvia De Rubeis and Alexander Kolevzon and Joseph D. Buxbaum},
  journal={Journal of child neurology},
  year={2015},
  volume={30 14},
  pages={1861-70}
}
Phelan-McDermid syndrome or 22q13.3 deletion syndrome is a rare neurodevelopmental disorder characterized by generalized developmental delay, intellectual disability, absent or delayed speech, seizures, autism spectrum disorder, neonatal hypotonia, physical dysmorphic features, and recurrent medical comorbidities. Individuals with Phelan-McDermid syndrome have terminal deletions of the chromosomal region 22q13.3 encompassing SHANK3, a gene encoding a structural component of excitatory synapses… CONTINUE READING