Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.

TitleIdentification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.
Publication TypeJournal Article
AuthorsPunetha, J, Mackay-Loder, L, Harel, T, Coban-Akdemir, Z, Jhangiani, SN, Gibbs, RA, Lee, I, Terespolsky, D, Lupski, JR, Posey, JE
PubMed ID30249361
Grant ListK08 HG008986 / HG / NHGRI NIH HHS / United States
R35 NS105078 / NS / NINDS NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States