Novel mutations in the L1CAM gene support the complexity of L1 syndrome. [electronic resource]
Producer: 20101021Description: 124-6 p. digitalISSN:- 1878-5883
- Adolescent
- Adult
- Agenesis of Corpus Callosum
- Child
- Child, Preschool
- Female
- Genetic Diseases, X-Linked -- genetics
- Humans
- Hydrocephalus -- genetics
- Infant
- Male
- X-Linked Intellectual Disability -- genetics
- Middle Aged
- Mutation
- Neural Cell Adhesion Molecule L1 -- genetics
- Phenotype
- Spastic Paraplegia, Hereditary -- genetics
- Syndrome
- Thumb -- abnormalities
- Young Adult
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Publication Type: Journal Article
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