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

Genetics in Medicine, Published online: 06 May 2021; doi:10.1038/s41436-021-01178-xPaired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype–phenotype correlation in congenital central hypoventilation syndrome (CCHS)

Source: Genetics in Medicine - May 6, 2021 Category: Genetics & Stem Cells 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 Bachetti Melanie Pennock Kai Lee Yap Debra E. Weese-Mayer Source Type: research