A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1528
Abstract: Mutations in the PHOX2B gene cause congenital central hypoventilation syndrome (CCHS), a rare autonomic nervous system dysfunction disorder characterized by a decreased ventilatory response to hypercapnia. Affected subjects develop alveolar hypoventilation requiring ventilatory support particularly… read more here.
Keywords: respiratory hirschsprung; generation family; family associated; hirschsprung phenotype ... See more keywords
Erratum: Muckle–Wells syndrome in an Indian family associated with NLRP3 mutation
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Postgraduate Medicine"
DOI: 10.4103/0022-3859.169506
Abstract: [This corrects the article DOI: 10.4103/0022-3859.153107]. read more here.
Keywords: indian family; erratum muckle; wells syndrome; syndrome indian ... See more keywords