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

The Liebenberg syndrome: in depth analysis of the original family.

The Journal of hand surgery, European volume - 1 Nov 2014

Mennen U, Mundlos S, Spielmann M

Abstract excerpt

The Liebenberg syndrome was first described in 1973 in a five- generation family. A sixth generation was added in 2001, and in 2009 a hitherto unknown branch of the same family with similar anomalies extended the family tree significantly. This article describes the clinical findings and illustrates the abnormalities with radiographs and three-dimensional computed tomography scans. We discuss the genetic...

Read the complete abstract on PubMed

Topics

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

Share to Brachydactyly
Share to Chromosomes, Human, Pair 5
Share to Fingers

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

Share to Hand Deformities, Congenital

Share to Imaging, Three-Dimensional

Share to Paired Box Transcription Factors

Share to Synostosis

Source

Identifiers

PMID: 23940102
DOI: 10.1177/1753193413502162

Genes

PITX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 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

The Liebenberg syndrome: in depth analysis of the original family.PMID 23940102Read ↗

Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics.Semantic proximity Read ↗

A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome.Semantic proximity Read ↗

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.Semantic proximity Read ↗

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactylySemantic proximity Read ↗

Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation.Semantic proximity Read ↗

Split-hand/foot malformation - molecular cause and implications in genetic counseling.Semantic proximity Read ↗

Novel copy number variants and major limb reduction malformation: Report of three cases.Semantic proximity Read ↗

The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects.Semantic proximity Read ↗

Genetics, epidemiology and management of clubfoot and related disordersSemantic proximity Read ↗

Hereditary multiple exostoses: from genetics to clinical syndrome and complications.Semantic proximity Read ↗

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans.Semantic proximity Read ↗

Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency.Semantic proximity Read ↗

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