Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene.
S
S
Saitoh
T
T
Kubota
T
T
Ohta
Y
Y
Jinno
N
N
Niikawa
T
T
Sugimoto
J
J
Wagstaff
M
M
Lalande
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