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Genetic links between brain development and brain evolution.
A de novo GRIN1 Variant Associated With Myoclonus and Developmental Delay: From Molecular Mechanism to Rescue Pharmacology.
Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.
Anabolism-Associated Mitochondrial Stasis Driving Lymphocyte Differentiation over Self-Renewal.
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