Original paper
Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report
Abstract
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 previously described pathogenic single...
Paper Details
Title
Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report
Published Date
Aug 17, 2021
Journal
Volume
14
Issue
1
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Notes
History