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

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.

Journal of medical genetics - 1 Jun 2008

Klopocki E, Ott C-E, Benatar N, Ullmann R, Mundlos S, Lehmann K

Abstract excerpt

BACKGROUND: Sonic hedgehog (SHH) plays an important role in defining the anterior-posterior axis in the developing limbs. A highly conserved non-coding sequence about approximately 1 Mb upstream from the sonic hedgehog gene (SHH) was shown to be a long range regulator for SHH expression in the limb bud. Point mutations within this non-coding regulatory region designated ZRS lead to ectopic expression of Shh in...

Read the complete abstract on PubMed

Topics

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

Share to Base Pairing
Share to Chromosome Breakage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Segregation

Share to Chromosomes, Human, Pair 7

Share to Fingers

Share to Hedgehog Proteins

Share to Regulatory Sequences, Nucleic Acid

Share to Syndactyly

Source

Identifiers

PMID: 18178630
DOI: 10.1136/jmg.2007.055699

Genes

SHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.PMID 18178630Read ↗

Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.Semantic proximity Read ↗

Microduplication of 7q36.3 encompassing the SHH long‑range regulator (ZRS) in a patient with triphalangeal thumb‑polysyndactyly syndrome and congenital heart disease.Semantic proximity Read ↗

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.Semantic proximity Read ↗

Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly.Semantic proximity Read ↗

A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.Semantic proximity Read ↗

Microduplications encompassing the Sonic hedgehog limb enhancer <scp>ZRS</scp> are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndromeSemantic proximity Read ↗

A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb.Semantic proximity Read ↗

Alterations to the remote control of Shh gene expression cause congenital abnormalities.Semantic proximity Read ↗

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.Semantic proximity Read ↗

The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions.Semantic proximity Read ↗

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis.Semantic proximity Read ↗

Preaxial polydactyly: a model for defective long-range regulation in congenital abnormalities.Semantic proximity Read ↗

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