Loss-of-Function Variants in <i>DRD1</i> 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...

Celý popis

Podrobná bibliografie

Hlavní autoři:	Kimberley M. Reid, Dora Steel, Sanjana Nair, Sanjay Bhate, Lorenzo Biassoni, Sniya Sudhakar, Michelle Heys, Elizabeth Burke, Erik-Jan Kamsteeg, Genomics England Research Consortium, Biju Hameed, Michael Zech, Niccolo E. Mencacci, Katy Barwick, Maya Topf, Manju A. Kurian
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	MDPI AG 2023-03-01
Edice:	Cells
Témata:	DRD1 dopamine dystonia parkinsonism
On-line přístup:	https://www.mdpi.com/2073-4409/12/7/1046
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!