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Article

Gene structure and allelic expression assay of the human GLI3 gene.

Human genetics - 1 Dec 1997

Kang S, Rosenberg M, Ko V D, Biesecker L G

Abstract excerpt

The GLI3 gene encodes a putative zinc finger transcription factor that is important in early vertebrate development. Haploinsufficiency of this gene has been associated with the Greig cephalopolysyndactyly syndrome and truncation mutations cause Pallister-Hall syndrome. In the course of studies to determine the etiology of Pallister-Hall syndrome, we required knowledge of the fine structure of GLI3 to perform...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9402960
DOI: 10.1007/s004390050605

Genes

GLI3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Gene structure and allelic expression assay of the human GLI3 gene.PMID 9402960Read ↗

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.Semantic proximity Read ↗

Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome.Semantic proximity Read ↗

New insights into genotype-phenotype correlation for GLI3 mutations.Semantic proximity Read ↗

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

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

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.Semantic proximity Read ↗

Pallister-Hall syndrome phenotype in mice mutant for Gli3.Semantic proximity Read ↗

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.Semantic proximity Read ↗

Point Mutations in Human GLI3 Cause Greig SyndromeSemantic proximity Read ↗

Expanded mutational spectrum of the GLI3 gene substantiates genotype–phenotype correlationsSemantic proximity Read ↗

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

Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.Semantic proximity Read ↗

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