Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death

BACKGROUND: Congenital central hypoventilation syndrome (CCHS), which is caused by PHOX2B with phenotypic variations, has a point of controversy: CCHS is putatively involved in autopsy cases of sudden unexpected infant death (SUID) including sudden infant death syndrome. OBJECTIVE: The relation of C...

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Detalles Bibliográficos
Autores principales: Ueda, Atsushi, Osawa, Motoki, Naito, Haruaki, Ochiai, Eriko, Kakimoto, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9053812/
https://www.ncbi.nlm.nih.gov/pubmed/35486589
http://dx.doi.org/10.1371/journal.pone.0267751

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9053812/
https://www.ncbi.nlm.nih.gov/pubmed/35486589
http://dx.doi.org/10.1371/journal.pone.0267751

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