An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a mutation.

TitleAn exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a mutation.
Publication TypeJournal Article
AuthorsPatel, RM, Liu, D, Gonzaga-Jauregui, C, Jhangiani, S, Lu, JT, V Sutton, R, Fernbach, SD, Azamian, M, White, L, Edmond, JC, Paysse, EA, Belmont, JW, Muzny, D, Lupski, JR, Gibbs, RA, Lewis, RAlan, Lee, BH, Lalani, SR, Campeau, PM
PubMed ID28299356
PubMed Central IDPMC5334472
Grant ListUM1 HG006542 / HG / NHGRI NIH HHS / United States