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

[A novel mutation of GLI3 gene underlying synpolydactyly in a family].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2017

Kang Ranran, Huang Sexin, Li Jie, Zou Yang, Xu Peiwen, Gao Ming, Wang Lijuan, Xie Hongqiang, Yan Junhao, Gao Yuan

Abstract excerpt

OBJECTIVE: To detect mutation of GLI3 gene in a family affected with autosomal dominant synpolydactyly. METHODS: Genomic DNA was extracted from peripheral blood samples from members of the family and 100 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and confirmed by Sanger sequencing. RESULTS: A heterozygous frameshift mutation c.480dupC was identified in the GLI3 gene...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Amino Acid Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GLI3 gene

Share to Mutation

Share to Nerve Tissue Proteins

Share to Pedigree

Share to Syndactyly

Share to Zinc Finger Protein Gli3

Source

Identifiers

PMID: 28777844
DOI: 10.3760/cma.j.issn.1003-9406.2017.04.005

Genes

GLI3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[A novel mutation of GLI3 gene underlying synpolydactyly in a family].PMID 28777844Read ↗

Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactyly.Semantic proximity Read ↗

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

Two Novel Frameshift Mutations in the GLI3 Gene Underlie Non-Syndromic Polydactyly in Chinese Families.Semantic proximity Read ↗

Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree.Semantic proximity Read ↗

Novel GLI3 pathogenic variants in complex pre- and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome.Semantic proximity Read ↗

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

Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.Semantic proximity Read ↗

Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients.Semantic proximity Read ↗

Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.Semantic proximity Read ↗

[Mutation analysis of HOXD13 gene in a Chinese family affected with autosomal dominant synpolydactyly].Semantic proximity Read ↗

[Identification of pathological variants of SLC12A3 gene in a pedigree affected with Gitelman syndrome].Semantic proximity Read ↗

[Analysis of phenotype and pathogenic variants in a Chinese pedigree affected with Multiple synostoses syndrome type 1].Semantic proximity Read ↗

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