Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion.
N M
NM
Allen
B
B
O'hIci
G
G
Anderson
T
T
Nestor
S Ann
SA
Lynch
M D
MD
King
D002675:Child, Preschool; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*
C121767:CLN8 protein, human; D008565:Membrane Proteins