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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Detalles Bibliográficos
Autores principales: Bachetti, Tiziana, Bagnasco, Simona, Piumelli, Raffaele, Palmieri, Antonella, Ceccherini, Isabella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8017182/
https://www.ncbi.nlm.nih.gov/pubmed/33815256
http://dx.doi.org/10.3389/fneur.2021.642735

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8017182/
https://www.ncbi.nlm.nih.gov/pubmed/33815256
http://dx.doi.org/10.3389/fneur.2021.642735

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