Nonsense Pathogenic Variants in Exon One of PHOX2B Lead to Translational Reinitiation in Congenital Central Hypoventilation Syndrome

Pathogenic variants in PHOX2B lead to congenital central hypoventilation syndrome (CCHS), a rare disorder of the nervous system characterized by autonomic dysregulation and hypoventilation typically presenting in the neonatal period, although a milder late-onset (LO) presentation has been reported....

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Cain, Jacob T., Kim, Dae I., Quast, Megan, Shivega, Winnie G., Patrick, Ryan J., Moser, Chuanpit, Reuter, Suzanne, Perez, Myrza, Myers, Angela, Weimer, Jill M., Roux, Kyle J., Landsverk, Megan
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5397359/
https://ncbi.nlm.nih.gov/pubmed/28371199
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38162
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