A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.

Authors :: de Bernabé DB
van Bokhoven H
van Beusekom E
Van den Akker W
Kant S
Dobyns WB
Cormand B
Currier S
Hamel B
Talim B
Topaloglu H
Brunner HG
Source :: Journal of medical genetics [J Med Genet] 2003 Nov; Vol. 40 (11), pp. 845-8.
Publication Year :: 2003

Subjects :: Brain abnormalities
Female
Humans
Infant
Male
Membrane Proteins
Muscular Dystrophies congenital
Pedigree
Phenotype
Syndrome
Codon, Nonsense genetics
Eye Abnormalities genetics
Muscular Dystrophies genetics
Proteins genetics

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