| 1 | CCHS2
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| PHOX2B genotype allows for prediction of tumor risk in congenital central ypoventilation syndrome.
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| Trochet D, O'Brien LM, Gozal D, Trang H, Nordenskjold A, Laudier B, Svensson PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gaultier C, Lyonnet S, Amiel J.
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| Am J Hum Genet 76(3):421-6. Epub 2005 Jan 18. Erratum in: Am J Hum Genet. 2005 Apr;76(4):715. Niemann, Stephan [added]. 2005
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| 2 | PHOX2B, CCHS3, CCHS2
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| Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.
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| Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, Marazita ML.
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| Am J Med Genet 123A(3):267-78. 2003
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| 3 | CCHS2
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| Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation.
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| Weese-Mayer DE, Bolk S, Silvestri JM, Chakravarti A.
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| Am J Med Genet 107(4):306-10. 2002
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| 4 | EDN3, CCHS2
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| Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome.
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| Bolk S, Angrist M, Xie J, Yanagisawa M, Silvestri JM, Weese-Mayer DE, Chakravarti A.
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| Nat Genet 13 : 395-396. 1996
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