Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype–phenotype correlation in congenital central hypoventilation syndrome (CCHS)
Amy Zhou, Casey M. Rand, Sara M. Hockney, Grace Niewijk, Patrick Reineke, Virginia Speare, Elizabeth Berry‐Kravis, Lili Zhou, Lawrence J. Jennings, Min Yu, Isabella Ceccherini, Tiziana Bachetti, M. Pennock, Kai Lee Yap, Debra E. Weese‐Mayer
Topics & Concepts
Congenital central hypoventilation syndromePhenotypeBiologyGeneticsGenotypeGenotype-phenotype distinctionGeneCorrelationBioinformaticsHypoventilationRespiratory systemGeometryAnatomyMathematicsNeuroscience of respiration and sleepNeurogenetic and Muscular Disorders ResearchNeonatal Respiratory Health Research