Case Report: Stress-Induced Childhood-Onset Neurodegeneration With Ataxia-Seizures Syndrome Caused by a Novel Compound Heterozygous Mutation in ADPRHL2

ADPRHL2 gene mutations have been demonstrated as the cause of stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive genetic disorder characterized by an abnormal gait, intellectual disability, seizures, ataxia, other nervous system dege...

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Detalles Bibliográficos
Autores principales: Lu, Aijun, Dong, Chunxia, Chen, Bihong, Xie, Lei, Hu, Huaiqiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8874324/
https://www.ncbi.nlm.nih.gov/pubmed/35222245
http://dx.doi.org/10.3389/fneur.2022.807291

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8874324/
https://www.ncbi.nlm.nih.gov/pubmed/35222245
http://dx.doi.org/10.3389/fneur.2022.807291

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