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

Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective Study.

Congenital anomalies - 1 Jan 2026

Wang Xinyao, Min Lingzhao, Bao Lei, Wei Jia, Wang Xiaoqiang

Abstract excerpt

Currarino syndrome (CS) is a congenital disorder caused by MNX1 gene mutation, resulting in abnormal caudal cell mass development. Clinical presentation varies from severe to mild forms. Classic triad of CS includes sacral agenesis, presacral mass, and anorectal malformation (ARM). We report a pair of monozygotic twins, both with the MNX1: c.780C>G mutation, presenting with different clinical phenotypes of...

Read the complete abstract on PubMed

Topics

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

Share to Anal Canal
Share to Homeodomain Proteins
Share to Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Phenotype

Share to Rectum

Share to Transcription Factors

Share to Twins, Monozygotic

Source

Open in PubMed Open full text

Identifiers

PMID: 41871837
DOI: 10.1002/cga.70046
PMCID: PMC13422656

Genes

CS
MNX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective Study.PMID 41871837Read ↗

Currarino syndrome: a comprehensive genetic review of a rare congenital disorderSemantic proximity Read ↗

Novel MNX1 mutations and genotype-phenotype analysis of patients with Currarino syndrome.Semantic proximity Read ↗

Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study.Semantic proximity Read ↗

Currarino syndrome: proposal of a diagnostic and therapeutic protocol.Semantic proximity Read ↗

The first case of mosaic MNX1 mutation in an adult female with features of Currarino syndrome.Semantic proximity Read ↗

Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome.Semantic proximity Read ↗

Currarino syndrome at Rikshospitalet 1961-2012.Semantic proximity Read ↗

Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases.Semantic proximity Read ↗

Clinical features and genetic characteristics of ovotesticular disorders of sex development - 24 cases from a single centerSemantic proximity Read ↗

Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.Semantic proximity Read ↗

The Genomic Architecture of Bladder Exstrophy Epispadias Complex.Semantic proximity Read ↗

The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.Semantic proximity Read ↗

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