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University of Arkansas for Medical Sciences
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Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.
de los Reyes E, Dyken PR, Phillips P, Brodsky M, Bates S, Glasier C, Mrak RE. Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect. J Child Neurol. 2004 Jan; 19(1):42-6.
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PubMed
subject areas
Alleles
Biopsy
Brain
Chromosome Deletion
Chromosomes, Human, Pair 15
Diagnosis, Differential
Electroencephalography
Electroretinography
Exons
Female
Humans
Infant
Magnetic Resonance Imaging
Membrane Glycoproteins
Microscopy, Electron
Molecular Chaperones
Muscle, Skeletal
Neurologic Examination
Neuronal Ceroid-Lipofuscinoses
Polymerase Chain Reaction
Retinal Degeneration
Skin
authors with profiles
Charles Glasier
Paul Phillips