Article

The molecular characterization of seven novel GLI family zinc finger 3 (GLI3) variants in Chinese families with limb malformations

2025-07-17

Abstract excerpt

<title>Abstract</title> <p>Background GLI family zinc finger 3 (GLI3) is a transcription factor involved in limb development. <italic>GLI3</italic> gene variants have been shown to be associated with several human congenital limb malformations, including Greig's head polydactyly and syndactyly, Pallister–Hall syndrome, non-syndromic postaxial polydactyly (PAP-A/B), and preaxial polydactyly type IV (PPD IV). The a...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 85e24c09-977e-5b35-aeb5-2c37b26d7332
DOI: 10.21203/rs.3.rs-7091124/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The molecular characterization of seven novel GLI family zinc finger 3 (GLI3) variants in Chinese families with limb malformationsDOI 10.21203/rs.3.rs-7091124/v1Read

Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactylySemantic proximity Read

Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.Semantic proximity Read

Novel GLI3 pathogenic variants in complex pre- and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome.Semantic proximity Read

Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.Semantic proximity Read

Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients.Semantic proximity Read

A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex.Semantic proximity Read

A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.Semantic proximity Read

Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactyly.Semantic proximity Read

A novel frameshift mutation GLI3c.1826delG in a Greig-cephalopolysyndactyly syndrome patient with nontypical preaxial polydactyly: A case reportSemantic proximity Read

A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.Semantic proximity Read

Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree.Semantic proximity Read

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