Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. [electronic resource]
Producer: 20040224Description: 35-41 p. digitalISSN:- 1468-6244
- 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
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Publication Type: Letter; Multicenter Study; Research Support, Non-U.S. Gov't
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