Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene

KLASKOVA, E., J. DRÁBEK, M. HOBZOVA, V. SMOLKA, M. SEDA, J. HYJÁNEK, R. SLAVKOVSKÝ, J. STRÁNSKÁ, M. PROCHAZKA

Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene. Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czech Republic. 2016, 160(4), 495-498, ISSN: 1213-8118, PMID: 27485184,

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Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene

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