Novel PHOX2B mutations in congenital central hypoventilation syndrome.
Ayako SasakiYumiko KishikawaReisuke ImajiYu FukushimaYukiko NakamuraYutaka NishimuraMegumi YamadaYoichi MinoTetsuo MitsuiKiyoshi HayasakaPublished in: Pediatrics international : official journal of the Japan Pediatric Society (2019)
Most patients carrying NPARM had severe symptoms with frequent complications, as in previous reports, and should be carefully monitored for various complications, including neural crest-derived tumor.