Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities (Q38192015)
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scientific article published on March 2014
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities |
scientific article published on March 2014 |
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Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities (English)
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Gabriele Gillessen-Kaesbach
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Alexander Hoischen
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Katja Lohmann
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Anna-Lena Baasch
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Joerg Klepper
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1 March 2014
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