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Article

PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.

American journal of respiratory and critical care medicine - 15 Apr 2008

Trochet Delphine, de Pontual Loïc, Straus Christian, Gozal David, Trang Ha, Landrieu Pierre, Munnich Arnold, Lyonnet Stanislas, Gaultier Claude, Amiel Jeanne

Abstract excerpt

RATIONALE: Late-onset central hypoventilation syndrome (LO-CHS) is a rare disorder that may manifest as early as infancy or as late as during adulthood. The potential overlap of LO-CHS with congenital CHS is under debate, even though both disorders can result from heterozygous PHOX2B gene mutations. OBJECTIVES: To characterize the PHOX2B status in a series of 25 patients with LO-CHS referred from 3 months of age...

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PMID: 18079495
DOI: 10.1164/rccm.200707-1079OC

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