Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report

BACKGROUND: Ataxia-telangiectasia is a rare autosomal recessive, neurodegenerative disorder caused by alterations in the ATM gene. The majority of ATM pathogenic variants are frameshift or nonsense variants which are predicted to truncate the whole ATM protein. Herein, we report on an ataxia telangi...

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Detalles Bibliográficos
Autores principales: Lee, Hoo Young, Jang, Dae-Hyun, Kim, Jae-Won, Lee, Dong-Woo, Jang, Ja-Hyun, Joo, Joungsu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8371864/
https://www.ncbi.nlm.nih.gov/pubmed/34404412
http://dx.doi.org/10.1186/s12920-021-01053-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8371864/
https://www.ncbi.nlm.nih.gov/pubmed/34404412
http://dx.doi.org/10.1186/s12920-021-01053-3

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