Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
Lenski
Claus
C
Abidi
Fatima
F
Meindl
Alfons
A
Gibson
Alice
A
Platzer
Matthias
M
Frank Kooy
R
R
Lubs
Herbert A
HA
Stevenson
Roger E
RE
Ramser
Juliane
J
Schwartz
Charles E
CE
D000015:Abnormalities, Multiple / Q000235:genetics; D000595:Amino Acid Sequence; D001483:Base Sequence; D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C119246:PQBP1 protein, human