Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia

The human dopaminergic system is vital for a broad range of neurological processes, including the control of voluntary movement. Here we report a proband presenting with clinical features of dopamine deficiency: severe infantile parkinsonism-dystonia, characterised by frequent oculogyric crises, dys...

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Detalles Bibliográficos
Autores principales: Reid, Kimberley M., Steel, Dora, Nair, Sanjana, Bhate, Sanjay, Biassoni, Lorenzo, Sudhakar, Sniya, Heys, Michelle, Burke, Elizabeth, Kamsteeg, Erik-Jan, Hameed, Biju, Zech, Michael, Mencacci, Niccolo E., Barwick, Katy, Topf, Maya, Kurian, Manju A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10093404/
https://www.ncbi.nlm.nih.gov/pubmed/37048120
http://dx.doi.org/10.3390/cells12071046

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10093404/
https://www.ncbi.nlm.nih.gov/pubmed/37048120
http://dx.doi.org/10.3390/cells12071046

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