title: A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
authors: D Beltrán-Valero
authors: DB
authors: de Bernabé
authors: H
authors: H
authors: van Bokhoven
authors: E
authors: E
authors: van Beusekom
authors: W
authors: W
authors: Van den Akker
authors: S
authors: S
authors: Kant
authors: W B
authors: WB
authors: Dobyns
authors: B
authors: B
authors: Cormand
authors: S
authors: S
authors: Currier
authors: B
authors: B
authors: Hamel
authors: B
authors: B
authors: Talim
authors: H
authors: H
authors: Topaloglu
authors: H G
authors: HG
authors: Brunner
mesh_terms: 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
chemical_list: D018389:Codon, Nonsense; C113587:FKTN protein, human; D008565:Membrane Proteins; D011506:Proteins