Ontology highlight
ABSTRACT:
SUBMITTER: Li Y
PROVIDER: S-EPMC4989199 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Li Yong Y Salfelder Anika A Schwab Karl Otfried KO Grünert Sarah Catharina SC Velten Tanja T Lütjohann Dieter D Villavicencio-Lorini Pablo P Matysiak-Scholze Uta U Zabel Bernhard B Köttgen Anna A Lausch Ekkehart E
European journal of human genetics : EJHG 20160127 9
Whole-exome sequencing allows for an unbiased and comprehensive mutation screening. Although successfully used to facilitate the diagnosis of single-gene disorders, the genetic cause(s) of a substantial proportion of presumed monogenic diseases remain to be identified. We used whole-exome sequencing to examine offspring from a consanguineous marriage featuring a novel combination of congenital hypothyroidism, hypomagnesemia and hypercholesterolemia. Rather than identifying one causative variant, ...[more]