Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.

Philosophical transactions of the Royal Society of London. Series B, Biological sciences - 19 Dec 2016

Cowan Jason R, Tariq Muhammad, Shaw Chad, Rao Mitchell, Belmont John W, Lalani Seema R, Smolarek Teresa A, Ware Stephanie M

Abstract excerpt

Genomic disorders and rare copy number abnormalities are identified in 15-25% of patients with syndromic conditions, but their prevalence in individuals with isolated birth defects is less clear. A spectrum of congenital heart defects (CHDs) is seen in heterotaxy, a highly heritable and genetically heterogeneous multiple congenital anomaly syndrome resulting from failure to properly establish left-right (L-R)...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cohort Studies
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Congenital heart defects research

Share to Congenital Heart Disease Studies

Share to DNA Copy Number Variations

Share to Genotype

Share to Oligonucleotide Array Sequence Analysis

Share to Phosphofructokinase-1

Source

Open in PubMed Open full text

Identifiers

PMID: 27821535
DOI: 10.1098/rstb.2015.0406
PMCID: PMC5104505

Genes

PFKP
ZIC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.PMID 27821535Read ↗

Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.Semantic proximity Read ↗

Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.Semantic proximity Read ↗

Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects.Semantic proximity Read ↗

Genetic and Clinical Features of Heterotaxy in a Prenatal CohortSemantic proximity Read ↗

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9 , PKD1L1 , MMP21 , and GDF1Semantic proximity Read ↗

Molecular genetics of heterotaxy syndromes.Semantic proximity Read ↗

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.Semantic proximity Read ↗

Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.Semantic proximity Read ↗

Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies.Semantic proximity Read ↗

CIROZ variants cause heterotaxy syndrome and is specifically expressed in GastruloidsSemantic proximity Read ↗

Situs inversus totalis and a novel ZIC3 mutation in a family with X-linked heterotaxy.Semantic proximity Read ↗

The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.