A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation

BACKGROUND: Mutations in the PHOX2B gene cause congenital central hypoventilation syndrome (CCHS), a rare autonomic nervous system dysfunction disorder characterized by a decreased ventilatory response to hypercapnia. Affected subjects develop alveolar hypoventilation requiring ventilatory support p...

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Detalles Bibliográficos
Autores principales: Pace, Nikolai Paul, Pace Bardon, Michael, Borg, Isabella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767558/
https://www.ncbi.nlm.nih.gov/pubmed/33047879
http://dx.doi.org/10.1002/mgg3.1528

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767558/
https://www.ncbi.nlm.nih.gov/pubmed/33047879
http://dx.doi.org/10.1002/mgg3.1528

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