Deletion of the last exon of SHANK3 gene produces the full Phelan-McDermid phenotype: a case report

Gene. 2013 Jul 25;524(2):386-9. doi: 10.1016/j.gene.2013.03.141. Epub 2013 Apr 21.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Chromosome Deletion
  • Chromosome Disorders / genetics*
  • Chromosomes, Human, Pair 22 / genetics
  • Comparative Genomic Hybridization
  • Developmental Disabilities / genetics
  • Exons*
  • Humans
  • Infant
  • Male
  • Nerve Tissue Proteins / genetics*
  • Phenotype
  • Physical Chromosome Mapping

Substances

  • Nerve Tissue Proteins
  • SHANK3 protein, human

Supplementary concepts

  • Telomeric 22q13 Monosomy Syndrome