Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease. [electronic resource]
Producer: 20170630Description: 431-440 p. digitalISSN:- 1399-0004
- Adolescent
- Child, Preschool
- Codon, Nonsense
- Exome -- genetics
- Female
- Genetic Heterogeneity
- Guanine Nucleotide Exchange Factors -- genetics
- High-Throughput Nucleotide Sequencing
- Humans
- Infant
- Kv1.2 Potassium Channel -- genetics
- Male
- Mutation
- Phenotype
- Protein Serine-Threonine Kinases -- genetics
- Rett Syndrome -- genetics
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Publication Type: Journal Article
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