Venturin, M <br/><br/>
Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.  [electronic resource] 

 -  Journal of medical genetics  Jan 2004 
 - 35-41 p.  digital 
<br/><br/> Publication Type: Letter; Multicenter Study; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.2003.014761  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acid Sensing Ion Channels<br/>Adolescent<br/>Adult<br/>Cardiovascular Abnormalities--genetics<br/>Carrier Proteins--genetics<br/>Child<br/>Child, Preschool<br/>Chromosome Deletion<br/>Chromosomes, Human, Pair 17--genetics<br/>Degenerin Sodium Channels<br/>Epithelial Sodium Channels<br/>Female<br/>GTPase-Activating Proteins<br/>Haplotypes--genetics<br/>Humans<br/>Intellectual Disability--genetics<br/>Ion Channels--genetics<br/>Male<br/>Membrane Glycoproteins--genetics<br/>Membrane Proteins--genetics<br/>Membrane Transport Proteins<br/>Myelin Proteins<br/>Myelin-Associated Glycoprotein--genetics<br/>Myelin-Oligodendrocyte Glycoprotein<br/>Neoplasm Proteins--genetics<br/>Nerve Tissue Proteins--genetics<br/>Neurofibromatosis 1--genetics<br/>Serotonin Plasma Membrane Transport Proteins<br/>Transcription Factors--genetics