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Article

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

PloS one - 1 Jan 2022

Ueda Atsushi, Osawa Motoki, Naito Haruaki, Ochiai Eriko, Kakimoto Yu

Abstract excerpt

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 CCHS to SUID cases was investigated by extensive genotyping of PHOX2B. METHODS: We analyzed 93 DNA samples of less...

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Identifiers

PMID: 35486589
DOI: 10.1371/journal.pone.0267751
PMCID: PMC9053812

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Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.PMID 35486589Read ↗

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