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Paper Details

Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.
Am J Med Genet A
22
2017
C, CCHS, HSCR, Hirschsprung disease, LO-CCHS, N, NPARMs, PARMs, PHOX2B, PHOX2B exon 1, PNTs, autonomic dysregulation, congenital central hypoventilation syndrome, disorder of the nervous system, downstream AUG codon, exon, exon 1, exon 3, first exon, hypoventilation, neuroblastic tumors, nonsense variants, patient, polyalanine, polyalanine repeat, target promoter
Author NameAffiliation
Jill M WeimerChildren's Health Research Center
Jill M WeimerSanford School of Medicine at the University of South Dakota
Kyle J RouxChildren's Health Research Center
Kyle J RouxSanford School of Medicine at the University of South Dakota
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