Article
Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.
The Journal of pediatrics - 1 Mar 2017
Theunissen Tom E J, Sallevelt Suzanne C E H, Hellebrekers Debby M E I, de Koning Bart, Hendrickx Alexandra T M, van den Bosch Bianca J C, Kamps Rick, Schoonderwoerd Kees, Szklarczyk Radek, Mulder-Den Hartog Elvira N M, de Coo Irenaeus F M, Smeets Hubert J M
Abstract excerpt
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.
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