Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

@inproceedings{Soorya2013ProspectiveIO,
  title={Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency},
  author={Latha Soorya and Alexander Kolevzon and Jessica Zweifach and Teresa Lim and Yuriy Dobry and Lily Schwartz and Yitzchak Frank and A Ting Wang and Guiqing Cai and Elena Parkhomenko and Danielle Halpern and David Grodberg and Benjamin Angarita and Judith P Willner and Amy C Yang and Roberto Canitano and William F. Chaplin and Catalina Betancur and Joseph D. Buxbaum},
  booktitle={Molecular autism},
  year={2013}
}
BACKGROUND 22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a neurodevelopmental disorder characterized by intellectual disability, hypotonia, delayed or absent speech, and autistic features. SHANK3 has been identified as the critical gene in the neurological and behavioral aspects of this syndrome. The phenotype of SHANK3 deficiency has been described primarily from case studies, with limited evaluation of behavioral and cognitive deficits. The present study used a… CONTINUE READING
Highly Influential
This paper has highly influenced 11 other papers. REVIEW HIGHLY INFLUENTIAL CITATIONS
Recent Discussions
This paper has been referenced on Twitter 15 times over the past 90 days. VIEW TWEETS
Blog posts, news articles and tweet counts and IDs sourced by
Altmetric.com