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

Chromosomal anomalies in the etiology of anorectal malformations: a review.

American journal of medical genetics. Part A - 1 Nov 2011

Marcelis Carlo, de Blaauw Ivo, Brunner Han

Abstract excerpt

Anorectal malformation (ARM) is a severe congenital anomaly that can occur either isolated or in association with other congenital abnormalities. It has a heterogeneous etiology with contribution of both genetic and environmental factors, although the etiological factors remain largely unknown. Several chromosomal abnormalities have been described in patients with an ARM. These chromosomal abnormalities could...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Anal Canal
Share to Anus, Imperforate

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Aberrations

Share to Chromosome Deletion

Share to Chromosomes, Human

Share to Databases, Genetic

Share to Genetic Testing

Source

Identifiers

PMID: 21990113
DOI: 10.1002/ajmg.a.34253

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Chromosomal anomalies in the etiology of anorectal malformations: a review.PMID 21990113Read ↗

Anorectal malformation: the etiological factors.Semantic proximity Read ↗

A review of genetic factors contributing to the etiopathogenesis of anorectal malformations.Semantic proximity Read ↗

Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populationsSemantic proximity Read ↗

Associations of anorectal malformations and related syndromesSemantic proximity Read ↗

The Role of De Novo Variants in Formation of Human Anorectal Malformations.Semantic proximity Read ↗

Increased heritability of certain types of anorectal malformations.Semantic proximity Read ↗

The genetics of anorectal malformations: a complex matter.Semantic proximity Read ↗

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations.Semantic proximity Read ↗

Genome-wide copy number variation study in anorectal malformations.Semantic proximity Read ↗

Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature.Semantic proximity Read ↗

A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.Semantic proximity Read ↗

Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritanceSemantic proximity Read ↗

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