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Article

Pallister-Hall syndrome phenotype in mice mutant for Gli3.

Human molecular genetics - 1 May 2002

Böse Jens, Grotewold Lars, Rüther Ulrich

Abstract excerpt

Mutations in the GLI3 gene have been identified in several human malformation syndromes. One of these autosomal dominant developmental disorders is Pallister-Hall syndrome (PHS; MIM146510), which is associated with central polydactyly and other malformations. Interestingly, the mutations in the GLI3 transcription factor gene identified in patients with PHS are restricted to the region 3' of the zinc...

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Source

Identifiers

PMID: 11978771
DOI: 10.1093/hmg/11.9.1129

Genes

GLI3

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.

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