university website

Theunissen, T.E.J. (Tom E.J.), S.C.E.H. Sallevelt (Suzanne), D.M.E.I. Hellebrekers (Debby), B. De Koning (Bart), A. Hendrickx (Alexandra), B. van den Bosch (Bianca), R. Kamps (Rick), K. Schoonderwoerd (Kees), R. Szklarczyk (Radek), Mulder-Den Hartog, E.N.M. (Elvira N.M.), et al. I.F.M. de Coo (René) and H.J.M. Smeets (Hubert)

2017-03-01

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing

Publication

Publication

Journal of Pediatrics , Volume 182 p. 371- 374.e2

Whole-exome sequencing identified multiple genetic causes in 2 infants with heterogeneous disease. Three gene defects in the first patient explained all symptoms, but manifestations were overlapping (blended phenotype). Two gene defects in the second patient explained nonoverlapping symptoms (composite phenotype). Whole-exome sequencing rapidly and comprehensively resolves heterogeneous genetic disease.

Additional Metadata
Keywords complex disease, genetic diagnosis, phenotypic characterization
Persistent URL doi.org/10.1016/j.jpeds.2016.12.032, hdl.handle.net/1765/98304
Journal Journal of Pediatrics
Organisation Department of Clinical Genetics
Citation
Theunissen, T.E.J. (Tom E.J.), Sallevelt, S., Hellebrekers, D., De Koning, B., Hendrickx, A., van den Bosch, B., … Smeets, H. (2017). Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing. Journal of Pediatrics, 182, 371–374.e2. doi:10.1016/j.jpeds.2016.12.032


User Publication Person Organisation Collection
Close