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Expanding the phenotype of CACNA1C mutation disorders
BACKGROUND: Pathogenic variants in the L‐type Ca(2+) channel gene CACNA1C cause a multi‐system disorder that includes severe long QT syndrome (LQTS), congenital heart disease, dysmorphic facial features, syndactyly, abnormal immune function, and neuropsychiatric disorders, collectively known as Timo...
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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.
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8222832/ https://ncbi.nlm.nih.gov/pubmed/33797204 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1673 |
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