A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation
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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