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Health-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study

BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disease due to PHOX2B mutations. CCHS patients suffer from many autonomic disorders, dominated clinically by defective ventilatory automatisms. From birth, the life of CCHS patients depends on ventilatory support during...

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Detalles Bibliográficos
Autores principales: Verkaeren, Emilienne, Brion, Agnès, Hurbault, Amélie, Chenivesse, Cécile, Morelot-Panzini, Capucine, Gonzalez-Bermejo, Jésus, Attali, Valérie, Similowski, Thomas, Straus, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4487972/
https://www.ncbi.nlm.nih.gov/pubmed/26122307
http://dx.doi.org/10.1186/s12931-015-0241-3