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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....
Gorde:
| Argitaratua izan da: | Am J Med Genet A |
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| Egile Nagusiak: | , , , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2017
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| Gaiak: | |
| Sarrera elektronikoa: | 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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