Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series

INTRODUCTION: Congenital central hypoventilation syndrome is an autosomal dominant disorder that classically presents as sudden death in infancy secondary to central hypoventilation. Most cases are caused by polyalanine repeat mutations in the paired-like homeobox 2B gene, PHOX2B. More severe diseas...

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Detalles Bibliográficos
Autores principales: Bygarski, Elizabeth, Paterson, Melanie, Lemire, Edmond G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3651317/
https://www.ncbi.nlm.nih.gov/pubmed/23622117
http://dx.doi.org/10.1186/1752-1947-7-117

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