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Article

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.

American journal of medical genetics. Part A - 15 Dec 2003

Johnston Jennifer J, Olivos-Glander Isabelle, Turner Joyce, Aleck Kyrieckos, Bird Lynne M, Mehta Lakshmi, Schimke R Neil, Heilstedt Heidi, Spence J Edward, Blancato Jan, Biesecker Leslie G

Abstract excerpt

Greig cephalopolysyndactyly syndrome (GCPS) is caused by haploinsufficiency of GLI3 on 7p13. Features of GCPS include polydactyly, macrocephaly, and hypertelorism, and may be associated with cognitive deficits and abnormalities of the corpus callosum. GLI3 mutations in GCPS patients include point...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14608643
DOI: 10.1002/ajmg.a.20318

Genes

GLI3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14608643-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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