Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes. - Giampietro PF; Armstrong L; Stoddard A; Blank RD; Livingston J; Raggio CL; Rasmussen K; Pickart M; Lorier R; Turner A; Sund S; Sobrera N; et al. (American journal of medical genetics. Part A, 2015)