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Article

Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions.

American journal of medical genetics. Part A - 1 Jun 2018

Byers Heather M, Chen Maida, Gelfand Andrew S, Ong Bruce, Jendras Marisa, Glass Ian A

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) is a neurocristopathy caused by pathogenic heterozygous variants in the gene paired-like homeobox 2b (PHOX2B). It is characterized by severe infantile alveolar hypoventilation. Individuals may also have diffuse autonomic nervous system dysfunction, Hirschsprung disease and neural crest tumors. We report three individuals with CCHS due to an 8-base pair...

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PMID: 29696799
DOI: 10.1002/ajmg.a.38726
PMCID: PMC5992090

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