Title : A Case of "Abnormally Abnormal" Hypoxic Ventilatory Responses: A Novel NPARM PHOX 2B Gene Mutation.

Pub. Date : 2017 Aug 15

PMID : 28356171






1 Functional Relationships(s)
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1 ABSTRACT: Congenital central hypoventilation syndrome (CCHS) is a rare disorder associated with dysregulation of the autonomic ventilatory response to hypoxia and hypercarbia usually caused by polyalanine repeat expansion mutations in the PHOX 2B gene. polyalanine paired like homeobox 2B Homo sapiens