Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence.

Mantel I, Brantley MA, Bellmann C, Robson AG, Holder GE, Taylor A, Anderson G, Moore AT
Klin Monbl Augenheilkd. 2004 221 (5): 427-30

PMID: 15162299 · DOI:10.1055/s-2004-812819

MeSH Terms (19)

Blindness Child Chromosome Deletion Chromosomes, Human, Pair 16 Corneal Dystrophies, Hereditary Disease Progression DNA Mutational Analysis Electroretinography Female Fluorescein Angiography Homozygote Humans Male Membrane Glycoproteins Molecular Chaperones Neuronal Ceroid-Lipofuscinoses Night Blindness Phenotype Retinal Degeneration

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