P091 Three generations of a family diagnosed with congenital central hypoventilation syndrome: A case series

INTRODUCTION: Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant disorder characterized by alveolar hypoventilation and autonomic dysregulation secondary to mutations of the PHOX2B genes.The disorder results in ventilatory impairment characterized by alveolar hypoventilation...

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Detalles Bibliográficos
Autores principales: Pimenta, M, Saddi, V, Thambipillay, G, Teng, A, Blecher, G, Martin, B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Poster Presentations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10109424/
http://dx.doi.org/10.1093/sleepadvances/zpac029.161

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