Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 28081892.
- Also identified by DOI 10.1016/j.jpeds.2016.12.032.
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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.
Medical subject headings
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Mutation
- Sequence Analysis, DNA