Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS.
Weese-Mayer
Debra E
DE
Berry-Kravis
Elizabeth M
EM
Zhou
Lili
L
D000328:Adult; D017668:Age of Onset; D001342:Autonomic Nervous System Diseases / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D005819:Genetic Markers; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D020182:Sleep Apnea, Central / Q000151:congenital / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
D005819:Genetic Markers; D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors