title: Congenital central hypoventilation syndrome due to PHOX2B mutation in a Saudi child: a case report.
authors.affiliation: University Sleep Disorders Center, Department of Pediatrics, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia. alsaadi@ksu.edu.sa
authors.forename: Muslim Mohammed
authors.initials: MM
authors.lastname: Al Saadi
mesh_terms: D000483:Alleles; D001341:Autonomic Nervous System / Q000503:physiopathology; D002869:Chromosome Aberrations; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D016000:Cluster Analysis; D004252:DNA Mutational Analysis; D005799:Genes, Dominant / Q000235:genetics; D006580:Genetic Carrier Screening; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007040:Hypoventilation / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D007231:Infant, Newborn; D008297:Male; D012529:Saudi Arabia; D020182:Sleep Apnea, Central / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D014157:Transcription Factors / Q000235:genetics*; D000097577:Homeobox Protein PITX2
chemical_list: D018398:Homeodomain Proteins; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2; C109220:NBPhox protein