A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58.
Abidi
F E
FE
Holinski-Feder
E
E
Rittinger
O
O
Kooy
F
F
Lubs
H A
HA
Stevenson
R E
RE
Schwartz
C E
CE
D001483:Base Sequence; D004252:DNA Mutational Analysis; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion; D059470:Tetraspanins; D014960:X Chromosome
D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C404405:TSPAN7 protein, human; D059470:Tetraspanins