New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. [electronic resource]
Producer: 20180209Description: 259-263 p. digitalISSN:- 1364-6753
- Adenosine Triphosphatases -- genetics
- Brain Diseases -- complications
- Child
- Child, Preschool
- Chorea -- complications
- Female
- Homozygote
- Humans
- Intellectual Disability -- complications
- Muscle Hypotonia -- complications
- Mutation
- Optic Atrophy -- complications
- Pedigree
- Phospholipid Transfer Proteins -- genetics
- Syndrome
- Exome Sequencing
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Publication Type: Journal Article
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