Angelman syndrome caused by an identical familial 1,487-kb deletion.
Sato
Kanako
K
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Iwakoshi
Mie
M
Shimokawa
Osamu
O
Sakai
Haruya
H
Ohta
Tohru
T
Saitoh
Shinji
S
Miyake
Noriko
N
Niikawa
Norio
N
Harada
Naoki
N
Saitsu
Hirotomo
H
Mizuguchi
Takeshi
T
Matsumoto
Naomichi
N
D000328:Adult; D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010375:Pedigree; D010641:Phenotype