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

• Autori principali: Hoo Young Lee (Autore), Dae-Hyun Jang (Autore), Jae-Won Kim (Autore), Dong-Woo Lee (Autore), Ja-Hyun Jang (Autore), Joungsu Joo (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2021-08-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Abstract 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...