Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS)

Amy Zhou, Casey M. Rand, Debra E. Weese-Mayer, Elizabeth M. Berry-Kravis, Grace Niewijk, Isabella Ceccherini, Kai Lee Yap, Lawrence J. Jennings, Lili Zhou, Melanie Pennock, Min Yu, Patrick Reineke, Sara M Hockney, Tiziana Bachett, Virginia Speare