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

Neurofibromatosis type 1 (NF1[MIM 162200]) is a common autosomal dominant disorder that affects 1/3500 individuals and is caused by deletion or point mutations of NF1, a tumour suppressor gene mapping to 17q11.2. The only published comparative study concerned a single clinical sign (the development...

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Veröffentlicht in:	Journal of medical genetics 2004-01, Vol.41 (1), p.35-41
Hauptverfasser:	Venturin, M, Guarnieri, P, Natacci, F, Stabile, M, Tenconi, R, Clementi, M, Hernandez, C, Thompson, P, Upadhyaya, M, Larizza, L, Riva, P
Format:	Artikel
Sprache:	eng
Schlagworte:	Acid Sensing Ion Channels Adolescent Adult Biological and medical sciences candidate genes Cardiovascular Abnormalities - genetics cardiovascular malformation Carrier Proteins - genetics Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 17 - genetics Degenerin Sodium Channels Diagnostic and Statistical Manual of Mental Diseases DSM-IV Epithelial Sodium Channels Female FISH fluorescent in situ hybridisation fourth edition General aspects. Genetic counseling Genes Genotype & phenotype GTPase-Activating Proteins Haplotypes - genetics Heart Humans Intellectual disabilities Intellectual Disability - genetics Ion Channels - genetics Learning disabilities Letter to JMG Male malignant peripheral nerve sheath tumour Medical genetics Medical sciences Membrane Glycoproteins - genetics Membrane Proteins - genetics Membrane Transport Proteins mental retardation MPNST Mutation Myelin Proteins Myelin-Associated Glycoprotein - genetics Myelin-Oligodendrocyte Glycoprotein Neoplasm Proteins - genetics Nerve Tissue Proteins - genetics Neurofibromatosis 1 - genetics neurofibromatosis type 1 NF1 NF1 microdeletion syndrome Proteins Serotonin Plasma Membrane Transport Proteins Signs Studies Transcription Factors - genetics Tumors
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