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

[Analysis of gene variant in a Chinese pedigree with preaxial polydactyly].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2021

Li Zhe, Zhou Yongan, Li Jianwei, Geng Junmei, Li Xingxing, Bai Yuan, Han Yaxin, Cheng Jianping, Qin Yanhong, Ren Ruirui

Abstract excerpt

OBJECTIVE: To analyze the pathogenic variant of preaxial polydactyly in a Chinese Han pedigree and identify the cause of polydactyly. METHODS: The peripheral blood DNA of the proband and her parents was extracted. The polydactyly-related genes were detected by trio whole exome sequencing, and the suspected pathogenic gene was screened out. Sanger sequencing was applied to other members of the pedigree. RESULTS:...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Share to Polydactyly

Source

Identifiers

PMID: 34729753
DOI: 10.3760/cma.j.cn511374-20200824-00620

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Analysis of gene variant in a Chinese pedigree with preaxial polydactyly].PMID 34729753Read ↗

[Analysis of genetic variants and molecular pathogenesis in a Chinese pedigree affected with Multiple epiphyseal dysplasia].Semantic proximity Read ↗

A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.Semantic proximity Read ↗

[Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene].Semantic proximity Read ↗

[Analysis of ASXL3 gene variant in a child with Bainbridge-Ropers syndrome].Semantic proximity Read ↗

[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Bainbridge-Ropers syndrome].Semantic proximity Read ↗

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

[Analysis of PRX gene variants in a child with Charcot-Marie-Tooth disease type 4F].Semantic proximity Read ↗

Genetic Analysis of Preaxial Polydactyly: Identification of Novel Mutations and the Role of ZRS Duplications in a Chinese Cohort of 102 casesSemantic proximity Read ↗

[Clinical phenotype and genetic analysis of six Chinese patients affected with Acromicric dysplasia due to variants of FBN1 gene].Semantic proximity Read ↗

[Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report].Semantic proximity Read ↗

A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes.Semantic proximity Read ↗

[Genetic analysis of a child with Dias-Logan syndrome due to variant of BCL11A gene].Semantic proximity Read ↗

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