CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants
Abstract Background Pathogenic variants in connector enhancer of kinase suppressor of Ras-2 (CNKSR2) located on the X chromosome (Xp22.12) lead to a disorder characterized by developmental delay and a characteristic seizure phenotype. To date, 20 affected males representing 13 different pathogenic v...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
BMC,
2021-07-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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