TY - JOUR 
AU - Yuan, Bo
AU - Neira, Juanita
AU - Gu, Shen
AU - Harel, Tamar
AU - Liu, Pengfei
AU - Briceño Balcázar, Ignacio
AU - Elsea, Sarah H.
AU - Gómez Gutiérrez, Alberto
AU - Potocki, Lorraine
AU - Lupski, James R.
PY - 2017
UR - http://hdl.handle.net/10818/32970
AB - Hereditary neuropathy with liability to pressure palsies (HNPP) and Smith-Magenis syndrome (SMS) are genomic disorders associated with deletion copy number variants involving chromosome 17p12 and 17p11.2, respectively. Nonallelic homologous...
LA - eng
PB - Human Genetics
KW - Contiguous gene deletion
KW - PMP22
KW - RAI1
KW - FoSTeS/MMBIR
TI - Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy
DO - 10.1007/s00439-016-1703-5
ER -