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Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
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Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med. 2006 Nov 15; 174(10):1139-44.
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PubMed
subject areas
Codon, Nonsense
DNA Repeat Expansion
Frameshift Mutation
Hirschsprung Disease
Homeodomain Proteins
Humans
Mutation
Mutation, Missense
Neuroblastoma
Penetrance
Peptides
Phenotype
Sleep Apnea, Central
Transcription Factors
authors with profiles
Elizabeth Berry-Kravis