Shedding light on the phenotypic–genotypic correlation of rare treatable and potentially treatable pediatric movement disorders

Shedding light on the phenotypic–genotypic correlation of rare treatable and potentially treatable pediatric movement disorders

Abstract Background Advances in genetic science have led to the identification of many rare treatable pediatric movements disorders (MDs). We explored the phenotypic–genotypic spectrum of pediatric patients presenting with MDs. By this, we aimed at raising awareness about such rare disorders, especi...

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Bibliographic Details
Main Authors: Dina Amin Saleh, Azza Abd El Moneim Attia
Format: Article
Language:English
Published: SpringerOpen 2022-04-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Ataxia
Dyskinesia
Dystonia
Genotype
Movement disorders
Phenotype
Online Access:https://doi.org/10.1186/s43042-022-00286-w

Internet

https://doi.org/10.1186/s43042-022-00286-w

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