Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl. [electronic resource]
Producer: 20150331Description: 2025-8 p. digitalISSN:- 1552-4833
- Alleles
- Child, Preschool
- Chromosome Breakpoints
- Comparative Genomic Hybridization
- DNA Mutational Analysis
- Exons
- Female
- Gene Deletion
- Gene Duplication
- Genetic Association Studies
- Humans
- Infant
- Infant, Newborn
- Mosaicism
- Mutation
- Protein Serine-Threonine Kinases -- genetics
- Rett Syndrome -- diagnosis
- Spasms, Infantile -- diagnosis
- X Chromosome Inactivation
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Publication Type: Case Reports; Journal Article
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