Sudden unexpected death in asymptomatic infants due to PPA2 variants

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 index case,...

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Detalles Bibliográficos
Autores principales: Phoon, Colin K. L., Halvorsen, Matthew, Goldstein, David B., Rabin, Rachel, Cecchin, Frank, Crandall, Laura, Devinsky, Orrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978244/
https://www.ncbi.nlm.nih.gov/pubmed/31705601
http://dx.doi.org/10.1002/mgg3.1008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978244/
https://www.ncbi.nlm.nih.gov/pubmed/31705601
http://dx.doi.org/10.1002/mgg3.1008

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