A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. [electronic resource]
Producer: 20171019Description: 611-617 p. digitalISSN:- 1552-4833
- Adolescent
- Agenesis of Corpus Callosum -- diagnosis
- Anus, Imperforate -- diagnosis
- Child
- Child, Preschool
- Constipation -- diagnosis
- Facies
- Female
- Gene Expression
- Genetic Association Studies
- Guanylate Kinases -- genetics
- High-Throughput Nucleotide Sequencing
- Humans
- In Situ Hybridization, Fluorescence
- Male
- X-Linked Intellectual Disability -- diagnosis
- Muscle Hypotonia -- congenital
- Mutation
- Neuropsychological Tests
- Nystagmus, Congenital -- diagnosis
- Phenotype
- Polymorphism, Single Nucleotide
- RNA Splice Sites
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Publication Type: Case Reports; Journal Article
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