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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Detalles Bibliográficos
Autores principales: Gakenheimer‐Smith, Lindsey, Meyers, Lindsay, Lundahl, Derek, Menon, Shaji C., Bunch, T. Jared, Sawyer, Briana L., Tristani‐Firouzi, Martin, Etheridge, Susan P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222832/
https://www.ncbi.nlm.nih.gov/pubmed/33797204
http://dx.doi.org/10.1002/mgg3.1673

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222832/
https://www.ncbi.nlm.nih.gov/pubmed/33797204
http://dx.doi.org/10.1002/mgg3.1673

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