An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Cold Spring Harbor Molecular Case Studies
Patel, Ronak M RM; Liu, David D; Gonzaga-Jauregui, Claudia C; Jhangiani, Shalini S; Lu, James T JT; Sutton, V Reid VR; Fernbach, Susan D SD; Azamian, Mahshid M; White, Lisa L; Edmond, Jane C JC; Paysse, Evelyn A EA; Belmont, John W JW; Muzny, Donna D; Lupski, James R JR; Gibbs, Richard A RA; Lewis, Richard Alan RA; Lee, Brendan H BH; Lalani, Seema R SR; Campeau, Philippe M PM
Publication Date: 2017-03
Variant appearance in text: HSPB7: 442A>G; Thr148Ala; rs530970423