Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2

J Med Genet. 2004 Jan;41(1):35-41. doi: 10.1136/jmg.2003.014761.
No abstract available

Publication types

  • Letter
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acid Sensing Ion Channels
  • Adolescent
  • Adult
  • Cardiovascular Abnormalities / genetics*
  • Carrier Proteins / genetics
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 17 / genetics*
  • Degenerin Sodium Channels
  • Epithelial Sodium Channels
  • Female
  • GTPase-Activating Proteins
  • Haplotypes / genetics
  • Humans
  • Intellectual Disability / genetics*
  • Ion Channels / genetics
  • Male
  • Membrane Glycoproteins / genetics
  • Membrane Proteins / genetics
  • Membrane Transport Proteins*
  • Myelin Proteins
  • Myelin-Associated Glycoprotein / genetics
  • Myelin-Oligodendrocyte Glycoprotein
  • Neoplasm Proteins / genetics
  • Nerve Tissue Proteins / genetics
  • Neurofibromatosis 1 / genetics*
  • Serotonin Plasma Membrane Transport Proteins
  • Transcription Factors / genetics

Substances

  • ADAP2 protein, human
  • ASIC2 protein, human
  • Acid Sensing Ion Channels
  • Carrier Proteins
  • Degenerin Sodium Channels
  • Epithelial Sodium Channels
  • GTPase-Activating Proteins
  • Ion Channels
  • MOG protein, human
  • Membrane Glycoproteins
  • Membrane Proteins
  • Membrane Transport Proteins
  • Myelin Proteins
  • Myelin-Associated Glycoprotein
  • Myelin-Oligodendrocyte Glycoprotein
  • Neoplasm Proteins
  • Nerve Tissue Proteins
  • SLC6A4 protein, human
  • SUZ12 protein, human
  • Serotonin Plasma Membrane Transport Proteins
  • Transcription Factors
  • RHBDL3 protein, human

Associated data

  • OMIM/162200