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A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient
BACKGROUND: Eight different deletions and point variants of the X‐chromosomal gene CNKSR2 have been reported in families with males presenting intellectual disability (ID) and epilepsy. Obligate carrier females with a frameshift variant in the N‐terminal protein coding part of CNKSR2 or with a delet...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6785448/ https://ncbi.nlm.nih.gov/pubmed/31414730 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.861 |
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