Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches

Infantile parkinsonism-dystonia due to dopamine transporter deficiency syndrome (DTDS) is an ultrarare childhood movement disorder caused by biallelic loss-of-function mutations in the SLC6A3 gene. Advances in genomic analysis have revealed an evolving spectrum of SLC6A3-related neurological and neu...

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Detalles Bibliográficos
Autores principales: Ng, Joanne, Barral, Serena, Waddington, Simon N., Kurian, Manju A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10341083/
https://www.ncbi.nlm.nih.gov/pubmed/37443770
http://dx.doi.org/10.3390/cells12131737

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10341083/
https://www.ncbi.nlm.nih.gov/pubmed/37443770
http://dx.doi.org/10.3390/cells12131737

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