TY  - GEN
AU  - Venturin,M
AU  - Guarnieri,P
AU  - Natacci,F
AU  - Stabile,M
AU  - Tenconi,R
AU  - Clementi,M
AU  - Hernandez,C
AU  - Thompson,P
AU  - Upadhyaya,M
AU  - Larizza,L
AU  - Riva,P
TI  - Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2
SN  - 1468-6244
PY  - 2004///0224
KW  - Acid Sensing Ion Channels
KW  - Adolescent
KW  - Adult
KW  - Cardiovascular Abnormalities
KW  - genetics
KW  - Carrier Proteins
KW  - Child
KW  - Child, Preschool
KW  - Chromosome Deletion
KW  - Chromosomes, Human, Pair 17
KW  - Degenerin Sodium Channels
KW  - Epithelial Sodium Channels
KW  - Female
KW  - GTPase-Activating Proteins
KW  - Haplotypes
KW  - Humans
KW  - Intellectual Disability
KW  - Ion Channels
KW  - Male
KW  - Membrane Glycoproteins
KW  - Membrane Proteins
KW  - Membrane Transport Proteins
KW  - Myelin Proteins
KW  - Myelin-Associated Glycoprotein
KW  - Myelin-Oligodendrocyte Glycoprotein
KW  - Neoplasm Proteins
KW  - Nerve Tissue Proteins
KW  - Neurofibromatosis 1
KW  - Serotonin Plasma Membrane Transport Proteins
KW  - Transcription Factors
N1  - Publication Type: Letter; Multicenter Study; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.2003.014761
ER  -