Associated Papers
NH2-terminal deletion of specific phosphorylation sites on PHOX2B disrupts the formation of enteric neurons in vivo.
Chang DF et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2021
A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.
Pace NP et al.
Molecular Genetics & Genomic Medicine, 2020
Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation.
Schirwani S et al.
Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2017
Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.
Cain JT et al.
American Journal of Medical Genetics. Part A, 2017
Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation.
Magalhães J et al.
Sleep & Breathing = Schlaf & Atmung, 2015
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