Article ID Journal Published Year Pages File Type
5719700 The Journal of Pediatrics 2017 6 Pages PDF
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.

Related Topics
Health Sciences Medicine and Dentistry Perinatology, Pediatrics and Child Health
Authors
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