Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability

Clin Genet. 2019 Mar;95(3):436-439. doi: 10.1111/cge.13470. Epub 2018 Dec 7.

Affiliations

¹ Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
² Department of Pediatrics, Örebro University Hospital, Örebro, Sweden.
³ Department of Pediatrics, Västerås Hospital, Västerås, Sweden.

Abstract

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Consanguinity*
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Intellectual Disability / diagnosis*
Intellectual Disability / genetics*
Mutation*
Phenotype
Whole Genome Sequencing*