Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report

BACKGROUND: Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an autosomal recessive disorder caused by defects in the ADP-Ribosylhydrolase Like 2 (ADPRHL2; OMIM: 618170) gene. This gene encodes the ADP-ribosylhydrolase enzyme (ARH3) that eliminates the...

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Detalles Bibliográficos
Autores principales: Aryan, Hajar, Razmara, Ehsan, Farhud, Dariush, Zarif-Yeganeh, Marjan, Zokaei, Shaghayegh, Hassani, Seyed Abbas, Ashrafi, Mahmoud Reza, Garshasbi, Masoud, Tavasoli, Ali Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397971/
https://www.ncbi.nlm.nih.gov/pubmed/32746785
http://dx.doi.org/10.1186/s12883-020-01873-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397971/
https://www.ncbi.nlm.nih.gov/pubmed/32746785
http://dx.doi.org/10.1186/s12883-020-01873-3

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