Functional characterization of a novel de novo CACNA1C pathogenic variant in a patient with neurodevelopmental disorder
Abstract Mutations in CACNA1C, the gene encoding Cav1.2 voltage-gated calcium channels, are associated with a spectrum of disorders, including Timothy syndrome and other neurodevelopmental and cardiac conditions. In this study, we report a child with a de novo heterozygous missense variant (c.1973T ...
I tiakina i:
| Ngā kaituhi matua: | , , , , , |
|---|---|
| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
BMC
2025-03-01
|
| Rangatū: | Molecular Brain |
| Ngā marau: | |
| Urunga tuihono: | https://doi.org/10.1186/s13041-025-01195-w |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
|