A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder. [electronic resource]
Producer: 20171207Description: 548-552 p. digitalISSN:- 1878-0849
- Autism Spectrum Disorder -- diagnosis
- Autistic Disorder -- diagnosis
- Child
- Chromosome Deletion
- Chromosome Duplication
- Chromosomes, Human, Pair 1 -- genetics
- Heart Defects, Congenital -- diagnosis
- Humans
- Intellectual Disability -- diagnosis
- Male
- Mosaicism
- Mutation, Missense
- Paraplegia -- diagnosis
- Paternal Inheritance
- Phenotype
- Spastin -- genetics
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Publication Type: Case Reports; Journal Article
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