A Common 3′UTR Variant of the PHOX2B Gene Is Associated With Infant Life-Threatening and Sudden Death Events in the Italian Population

A Common 3′UTR Variant of the PHOX2B Gene Is Associated With Infant Life-Threatening and Sudden Death Events in the Italian Population

Heterozygous mutations in the Paired like homeobox 2b (PHOX2B) gene are causative of congenital central hypoventilation syndrome (CCHS), a rare monogenic disorder belonging to the family of neurocristopathies and due to a defective development of the autonomic nervous system. Most patients manifest...

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Bibliographic Details
Main Authors: Tiziana Bachetti, Simona Bagnasco, Raffaele Piumelli, Antonella Palmieri, Isabella Ceccherini
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-03-01
Series:Frontiers in Neurology
Subjects:
PHOX2B
sudden infant death syndrome
idiopathic apparent life threatening event
miR-204
gene expression regulation
sudden unexpected infant death
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.642735/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2021.642735/full

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