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Thyroid hormone receptor-specific interactions with steroid receptor coactivator-1 in the pituitary.
Adherence to quality measures in a pediatric epilepsy center: a pilot study.
Phase I study of eniluracil, a dihydropyrimidine dehydrogenase inactivator, and oral 5-fluorouracil with radiation therapy in patients with recurrent or advanced head and neck cancer.
Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment.
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
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Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet. 2004 May; 41(5):e61.
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PubMed
subject areas
Brain
Child
Eye Abnormalities
Female
Genetic Predisposition to Disease
Humans
Infant, Newborn
Magnetic Resonance Imaging
Male
Muscle, Skeletal
Muscular Dystrophies
Mutation, Missense
Pentosyltransferases
Proteins
Syndrome
authors with profiles
William B. Dobyns