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

Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.

PloS one - 1 Jan 2013

Cui Long, Wong Emily Hoi-Man, Cheng Guo, Firmato de Almeida Manoel, So Man-Ting, Sham Pak-Chung, Cherny Stacey S, Tam Paul Kwong-Hang, Garcia-Barceló Maria-Mercè

Abstract excerpt

We present the genetic analyses conducted on a three-generation family (14 individuals) with three members affected with isolated-Hirschsprung disease (HSCR) and one with HSCR and heterochromia iridum (syndromic-HSCR), a phenotype reminiscent of Waardenburg-Shah syndrome (WS4). WS4 is characterized by pigmentary abnormalities of the skin, eyes and/or hair, sensorineural deafness and HSCR. None of the members had...

Read the complete abstract on PubMed

Topics

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

Share to DNA Copy Number Variations
Share to Genes, Dominant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hirschsprung Disease

Share to Inheritance Patterns

Share to Pedigree

Share to Pigmentation Disorders

Share to Receptor, Endothelin B

Share to SOXE Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 23840513
DOI: 10.1371/journal.pone.0066631
PMCID: PMC3694150

Genes

EDNRB
EDN3
DACH1
RET
SOX10

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

Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.PMID 23840513Read ↗

The Role of <i>de novo</i> and Ultra-Rare Variants in Hirschsprung Disease (HSCR): Extended Gene Discovery for Risk Profiling of PatientsSemantic proximity Read ↗

Size matters: large copy number losses reveal novel Hirschsprung disease genesSemantic proximity Read ↗

Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model.Semantic proximity Read ↗

Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing.Semantic proximity Read ↗

Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations.Semantic proximity Read ↗

The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical ApplicationsSemantic proximity Read ↗

Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.Semantic proximity Read ↗

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.Semantic proximity Read ↗

Comprehensive characterization of the genetic landscape of familial Hirschsprung's disease.Semantic proximity Read ↗

Population Differences in the Epidemiology, Phenotype, and Genetics of Hirschsprung Disease in the United StatesSemantic proximity Read ↗

SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis.Semantic proximity Read ↗

Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.Semantic proximity Read ↗

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