Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene.
Saitoh
S
S
Kubota
T
T
Ohta
T
T
Jinno
Y
Y
Niikawa
N
N
Sugimoto
T
T
Wagstaff
J
J
Lalande
M
M
D002872:Chromosome Deletion; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D011218:Prader-Willi Syndrome / Q000235:genetics*; D011963:Receptors, GABA-A / Q000235:genetics*
D011963:Receptors, GABA-A