Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease.
Weese-Mayer
Debra E
DE
Pediatric Respiratory Medicine, Rush Children's Hospital, 1653 West Congress Parkway, Chicago, IL 60612, USA. Debra_E_Weese-Mayer@rsh.net
Berry-Kravis
Elizabeth M
EM
D001341:Autonomic Nervous System / Q000503:physiopathology; D002648:Child; D005819:Genetic Markers; D005820:Genetic Testing; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D009154:Mutation; D020182:Sleep Apnea, Central / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D014157:Transcription Factors / Q000235:genetics
D005819:Genetic Markers; D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors