De novo mutations in SCN1A are associated with classic Rett syndrome: a case report
Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder. In more than 95% of females with classic RTT a pathogenic mutation in MECP2 has been identified. This leaves a small fraction of classic cases with other genetic causes. So far, there has not been reported any other gene that...
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| Main Authors: | , , , , |
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| Format: | Book |
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BMC,
2018-10-01T00:00:00Z.
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Internet
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |