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Article

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

Human molecular genetics - 1 Sept 1999

Kalff-Suske M, Wild A, Topp J, Wessling M, Jacobsen E M, Bornholdt D, Engel H, Heuer H, Aalfs C M, Ausems M G, Barone R, Herzog A, Heutink P, Homfray T, Gillessen-Kaesbach G, König R, Kunze J, Meinecke P, Müller D, Rizzo R, Strenge S, Superti-Furga A, Grzeschik K H

Abstract excerpt

Greig cephalopolysyndactyly syndrome, characterized by craniofacial and limb anomalies (GCPS; MIM 175700), previously has been demonstrated to be associated with translocations as well as point mutations affecting one allele of the zinc finger gene GLI3. In addition to GCPS, Pallister-Hall syndrome (PHS; MIM 146510) and post-axial polydactyly type A (PAP-A; MIM 174200), two other disorders of human development,...

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Source

Identifiers

PMID: 10441342
DOI: 10.1093/hmg/8.9.1769

Genes

GLI3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.PMID 10441342Read ↗

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

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