✦ LIBER ✦
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities
✍ Scribed by Baasch, Anna-Lena; Hüning, Irina; Gilissen, Christian; Klepper, Joerg; Veltman, Joris A.; Gillessen-Kaesbach, Gabriele; Hoischen, Alexander; Lohmann, Katja
- Book ID
- 121829456
- Publisher
- Wiley (Blackwell Publishing)
- Year
- 2014
- Tongue
- English
- Weight
- 188 KB
- Volume
- 55
- Category
- Article
- ISSN
- 0013-9580
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