Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.

Myers, Kenneth A

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay. [electronic resource] - American journal of medical genetics. Part A 01 2018 - 230-234 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.38549 doi


Brain--pathology
Child
Electroencephalography
Enzyme Activation
Enzyme Assays
Female
Gangliosidosis, GM1--diagnosis
Genetic Association Studies
Genotype
Humans
Mosaicism
Neuroimaging
Phenotype
Schwann Cells--metabolism
Skin--pathology
Uniparental Disomy
Exome Sequencing
beta-Galactosidase--genetics