Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3.
Benko
W S
WS
Metabolic Neurology Branch, NINDS, National Institutes of Health, Bethesda, MD, USA.
Hruska
K S
KS
Nagan
N
N
Goker-Alpan
O
O
Hart
P S
PS
Schiffmann
R
R
Sidransky
E
E
D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics*; D002675:Child, Preschool; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005776:Gaucher Disease / Q000150:complications / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005962:Glucosylceramidase / Q000172:deficiency / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006529:Hepatomegaly / Q000235:genetics; D006720:Homozygote; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation; D018993:Myelin P0 Protein / Q000235:genetics; D011681:Pupil Disorders / Q000235:genetics; D024182:Uniparental Disomy / Q000235:genetics*
D005819:Genetic Markers; D018993:Myelin P0 Protein; D005962:Glucosylceramidase