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 M. Berry-Kravis, Lili Zhou, Lawrence J. Jennings, Min Yu, Isabella Ceccherini, Tiziana Bachett, Melanie Pennock, Kai Lee Yap, Debra E. Weese-Mayer