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Article

Against all odds: blended phenotypes of three single-gene defects.

European journal of human genetics : EJHG - 1 Aug 2016

Li Yong, Salfelder Anika, Schwab Karl Otfried, Grünert Sarah Catharina, Velten Tanja, Lütjohann Dieter, Villavicencio-Lorini Pablo, Matysiak-Scholze Uta, Zabel Bernhard, Köttgen Anna, Lausch Ekkehart

Abstract excerpt

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,...

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Share to ATP Binding Cassette Transporter, Subfamily G, Member 5
Share to Hypercholesterolemia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hypothyroidism

Share to Intestinal Diseases

Share to Lipid Metabolism, Inborn Errors

Share to Phytosterols

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Share to TRPM Cation Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 26813946
DOI: 10.1038/ejhg.2015.285
PMCID: PMC4989199

Genes

ABCG5
TRPM6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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