Sudden unexpected death in asymptomatic infants due to PPA2 variants
Abstract Background Sudden death in children is a tragic event that often remains unexplained after comprehensive investigation. We report two asymptomatic siblings who died unexpectedly at approximately 1 year of age found to have biallelic (compound heterozygous) variants in PPA2. Methods The inde...
Main Authors: | Colin K. L. Phoon, Matthew Halvorsen, David B. Goldstein, Rachel Rabin, Frank Cecchin, Laura Crandall, Orrin Devinsky |
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Format: | Article |
Language: | English |
Published: |
Wiley
2020-01-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.1008 |
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