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

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

Journal of human genetics - 1 Oct 2016

Xiang Ying, Wang Zhigang, Bian Jingxia, Xu Yunlan, Fu Qihua

Abstract excerpt

Polydactyly is a clinically and genetically heterogeneous disorder. In the current report, we present a five-generation Chinese family with non-syndromic pre-axial polydactyly with thumb polydactyly (pre-axial polydactyly type I (PPD-I)) as a major clinical feature. Using whole-exome sequencing (WES), a novel nonsense mutation c.714T>A (p.Y238*) of the glioma-associated oncogene family zinc-finger 3 gene (GLI3)...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Nonsense
Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kruppel-Like Transcription Factors

Share to Nerve Tissue Proteins

Share to Polydactyly

Share to Zinc Finger Protein Gli3

Source

Identifiers

PMID: 27305983
DOI: 10.1038/jhg.2016.76

Genes

GLI3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactyly.PMID 27305983Read ↗

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

Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactylySemantic 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 ↗

Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.Semantic proximity Read ↗

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

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

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

GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.Semantic proximity Read ↗

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.Semantic proximity Read ↗

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly.Semantic proximity Read ↗

The molecular characterization of seven novel GLI family zinc finger 3 (GLI3) variants in Chinese families with limb malformationsSemantic proximity Read ↗

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