Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5719700 | The Journal of Pediatrics | 2017 | 6 Pages |
Abstract
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.
Keywords
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Perinatology, Pediatrics and Child Health
Authors
Tom E.J. MSc, Suzanne C.E.H. MD, Debby M.E.I. PhD, Bart PhD, Alexandra T.M. BASc, Bianca J.C. PhD, Rick BASc, Kees PhD, Radek PhD, Elvira N.M. MSc, Irenaeus F.M. MD, PhD, Hubert J.M. PhD,