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Article

The molecular basis of Pallister Hall associated polydactyly.

Human molecular genetics - 1 Sept 2007

Hill Patrick, Wang Baolin, Rüther Ulrich

Abstract excerpt

Mutations in GLI3 manifest in several distinct clinical phenotypes including Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome (PHS). GLI3 belongs to the GLI family of transcription factors that mediates extracellular Sonic hedgehog (SHH) signals. In the absence of SHH signals, GLI3 is processed to form a transcriptional repressor termed GLI3R. During early limb development, the regulation of GLI3...

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

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Source

Identifiers

PMID: 17588959
DOI: 10.1093/hmg/ddm156

Genes

GLI3
SHH

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

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Research trail→

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The molecular basis of Pallister Hall associated polydactyly.PMID 17588959Read ↗

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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 ↗

Preaxial polydactyly caused by Gli3 haploinsufficiency is rescued by Zic3 loss of function in mice.Semantic proximity Read ↗

Birth defects caused by mutations in human GLI3 and mouse Gli3 genes.Semantic proximity Read ↗

Progression of vertebrate limb development through SHH-mediated counteraction of GLI3.Semantic proximity Read ↗

A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote.Semantic proximity Read ↗

The amino-terminal region of Gli3 antagonizes the Shh response and acts in dorsoventral fate specification in the developing spinal cord.Semantic proximity Read ↗

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

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