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

Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes.

Clinical genetics - 1 Jul 2009

Semerci C N, Demirkan F, Ozdemir M, Biskin E, Akin B, Bagci H, Akarsu N A

Abstract excerpt

Preaxial polydactyly is a common limb malformation in humans with variable clinical expression. Different types of triphalangeal thumb-preaxial polydactyly phenotypes were mapped to the chromosome 7q36 region. We studied a large Turkish family of 69 individuals, of whom 22 individuals were affected. In all, 11 affected family members were clinically and radiologically evaluated. All affected individuals had a...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Segregation
Share to Chromosomes, Human, Pair 7

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

Share to Genetic Linkage

Share to Heterozygote

Share to Homozygote

Share to Introns

Share to Membrane Proteins

Share to Polydactyly

Source

Identifiers

PMID: 19519794
DOI: 10.1111/j.1399-0004.2009.01192.x

Genes

LMBR1

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

Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes.PMID 19519794Read ↗

Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.Semantic proximity Read ↗

An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36.Semantic proximity Read ↗

A familial case of Syndactyly type IV due to a novel duplication of ~222.23 kb covering exons 2-17 of the LMBR1 gene: a case reportSemantic proximity Read ↗

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.Semantic proximity Read ↗

Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36.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 ↗

Mutation analysis of a Chinese pedigree with triphalangeal thumb-polysyndactyly syndrome.Semantic proximity Read ↗

Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly.Semantic proximity Read ↗

Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree.Semantic proximity Read ↗

Identity-by-descent refines mapping of candidate regions for preaxial polydactyly in a large Chinese pedigreeSemantic proximity Read ↗

A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.Semantic proximity Read ↗

A novel acropectoral syndrome maps to chromosome 7q36.Semantic proximity Read ↗

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