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

Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.

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

Prontera Paolo, Stangoni Gabriela, Ardisia Carmela, Rogaia Daniela, Mencarelli Amedea, Donti Emilio

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Anophthalmos
Share to Child
Share to Chromosomes, Human, Pair 2
Share to Cytogenetic Analysis

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

Share to Ectromelia

Share to Hirschsprung Disease

Share to Mosaicism

Share to Trisomy

Source

Identifiers

PMID: 21416586
DOI: 10.1002/ajmg.a.33817

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.PMID 21416586Read ↗

Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia–microphthalmiaSemantic proximity Read ↗

[Clinical manifestations and genetics of true microcephaly].Semantic proximity Read ↗

SOX2 anophthalmia syndrome in adulthood - a neurodegenerative picture?Semantic proximity Read ↗

[Mosaic trisomy 13].Semantic proximity Read ↗

[SOX2 defect and anophthalmia and microphthalmia].Semantic proximity Read ↗

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmiaSemantic proximity Read ↗

A trisomy 2 fetus with severe neural tube defects and other abnormalitiesSemantic proximity Read ↗

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.Semantic proximity Read ↗

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.Semantic proximity Read ↗

Omenn phenotype with short-limbed dwarfism.Semantic proximity Read ↗

Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.Semantic proximity Read ↗

Caudal duplication syndrome: a literature review and reappraisal of its pathoembryogenesisSemantic proximity Read ↗

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