Three generations of a family diagnosed with congenital central hypoventilation syndrome: A case series

Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant disorder characterized by alveolar hypoventilation and autonomic dysregulation secondary to mutations of the PHOX2B genes. We present five cases from three generations within the same family with varying degrees of phenotypi...

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Detalles Bibliográficos
Autores principales: Saddi, Vishal, Thambipillay, Ganesh, Pimenta, Marina, Martin, Bradley, Blecher, Gregory, Teng, Arthur
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2022
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9250650/
https://www.ncbi.nlm.nih.gov/pubmed/35795478
http://dx.doi.org/10.1002/rcr2.999

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