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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Ltd
2022
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Materias: | |
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 |