Associated Papers
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
Causative and common PHOX2B variants define a broad phenotypic spectrum.
Bachetti T et al.
Clinical Genetics, 2020
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
Select a paper to view details