Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.
Venturin
M
M
Guarnieri
P
P
Natacci
F
F
Stabile
M
M
Tenconi
R
R
Clementi
M
M
Hernandez
C
C
Thompson
P
P
Upadhyaya
M
M
Larizza
L
L
Riva
P
P
D062565:Acid Sensing Ion Channels; D000293:Adolescent; D000328:Adult; D018376:Cardiovascular Abnormalities / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D062626:Degenerin Sodium Channels; D053503:Epithelial Sodium Channels; D005260:Female; D020690:GTPase-Activating Proteins; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007473:Ion Channels / Q000235:genetics; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D026901:Membrane Transport Proteins; D009185:Myelin Proteins; D018992:Myelin-Associated Glycoprotein / Q000235:genetics; D063308:Myelin-Oligodendrocyte Glycoprotein; D009363:Neoplasm Proteins / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000235:genetics*; D050486:Serotonin Plasma Membrane Transport Proteins; D014157:Transcription Factors / Q000235:genetics
C470610:ADAP2 protein, human; C568424:ASIC2 protein, human; D062565:Acid Sensing Ion Channels; D002352:Carrier Proteins; D062626:Degenerin Sodium Channels; D053503:Epithelial Sodium Channels; D020690:GTPase-Activating Proteins; D007473:Ion Channels; C571326:MOG protein, human; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; D009185:Myelin Proteins; D018992:Myelin-Associated Glycoprotein; D063308:Myelin-Oligodendrocyte Glycoprotein; D009363:Neoplasm Proteins; D009419:Nerve Tissue Proteins; C493230:SLC6A4 protein, human; C430461:SUZ12 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins; D014157:Transcription Factors; C466104:RHBDL3 protein, human