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Article

Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation.

American journal of medical genetics. Part A - 1 Aug 2005

Roscioli T, Kennedy D, Cui J, Fonseca B, Watson G F, Pereira J, Xie Y-G, Mowat D

Abstract excerpt

We describe two patients with Pallister-Hall syndrome (PHS), both with evidence of a generalized skeletal dysplasia as typified by upper and lower acromesomelic limb shortening and the previously unreported fibular hypoplasia, radio-ulnar bowing, and proximal epiphyseal hypoplasia. Genomic DNA was only available for sequencing analysis in patient 2 and the mutation, c.3386_3387delTT was detected in exon 14 of the...

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Source

Identifiers

PMID: 16007608
DOI: 10.1002/ajmg.a.30818

Genes

GLI3

Variants

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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Gene symbol: GLI3. Disease: Pallister-Hall syndrome.Semantic proximity Read ↗

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Metopic craniosynostosis due to mutations in GLI3: A novel association.Semantic proximity Read ↗

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GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndromeSemantic proximity Read ↗

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