Psychomotor development and attention problems caused by a splicing variant of CNKSR2
Abstract Background Mutations in CNKSR2 have been described in patients with neurodevelopmental disorders characterized by childhood epilepsy, language deficits, and attention problems. The encoded protein plays an important role in synaptic function. Case presentation Whole-exome sequencing was app...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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BMC,
2020-12-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |