Mutation in PQBP1 is associated with periventricular heterotopia.
Sheen
Volney L
VL
Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
Torres
Alcy R
AR
Du
Xiang
X
Barry
Brenda
B
Walsh
Christopher A
CA
Kimonis
Virginia E
VE
D000015:Abnormalities, Multiple / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D004268:DNA-Binding Proteins; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D054091:Periventricular Nodular Heterotopia / Q000150:complications / Q000235:genetics*; D055815:Young Adult
D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C119246:PQBP1 protein, human