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

<h4>Background</h4>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.<h4>...

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Bibliographic Details
Main Authors: Atsushi Ueda, Motoki Osawa, Haruaki Naito, Eriko Ochiai, Yu Kakimoto
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2022-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0267751