Article
Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report.
BMC medical genomics - 17 Aug 2021
Lee Hoo Young, Jang Dae-Hyun, Kim Jae-Won, Lee Dong-Woo, Jang Ja-Hyun, Joo Joungsu
Abstract excerpt
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 telangiectasia child with atypical phenotype who was identified as compound heterozygous for two ATM variants involving a...
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