Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS)
Authors: 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
Collaborators: Dip. Scienze della Terra dell'Ambiente e della Vita; IRCCS Istituto Giannina Gaslini; North Bristol NHS Trust; Northwestern University Feinberg School of Medicine; Rush University Medical Center; Stanley Manne Children's Research Institute, affiliated with Ann & Robert H. Lurie Children's Hospital of Chicago