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

Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.

American journal of medical genetics. Part A - 1 Sept 2020

Xu Jihai, Wu Jing, Teng Xiaofeng, Cai Libing, Yuan Huizong, Chen Xiaokun, Hu Mu, Wang Xin, Jiang Ning, Chen Hong

Abstract excerpt

Polydactyly and syndactyly are digital abnormalities in limb-associated birth defects usually caused by genetic disorders. In this study, a five-generation Chinese pedigree was found with triphalangeal thumb polysyndactyly syndrome (TPTPS), showing an autosomal dominant pattern of inheritance. We utilized linkage analysis and whole genome sequencing (WGS) for the genetic diagnosis of this pedigree. Linkage...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Abnormalities
Share to DNA Copy Number Variations

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

Share to Genetic Linkage

Share to Limb Deformities, Congenital

Share to Mandibulofacial Dysostosis

Share to Membrane Proteins

Share to Pedigree

Share to Whole Genome Sequencing

Source

Identifiers

PMID: 32662247
DOI: 10.1002/ajmg.a.61757

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

Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.PMID 32662247Read ↗

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 ↗

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

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

Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.Semantic proximity Read ↗

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

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

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

[Analysis of gene variant in a Chinese pedigree with preaxial polydactyly].Semantic proximity Read ↗

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

Disruption of the C7orf2/Lmbr1 genic region is associated with preaxial polydactyly in humans and mice.Semantic proximity Read ↗

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