A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
de Bernabé
D Beltrán-Valero
DB
van Bokhoven
H
H
van Beusekom
E
E
Van den Akker
W
W
Kant
S
S
Dobyns
W B
WB
Cormand
B
B
Currier
S
S
Hamel
B
B
Talim
B
B
Topaloglu
H
H
Brunner
H G
HG
D001921:Brain / Q000002:abnormalities; D018389:Codon, Nonsense / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins; D009136:Muscular Dystrophies / Q000151:congenital / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D013577:Syndrome
D018389:Codon, Nonsense; C113587:FKTN protein, human; D008565:Membrane Proteins; D011506:Proteins