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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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Detaylı Bibliyografya
Yayımlandı:Am J Med Genet A
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2017
Konular:
Online Erişim: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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