Article

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

2024-04-24

Abstract excerpt

<title>Abstract</title> <p>Background Polydactyly is a prevalent congenital anomaly with an incidence of 0.3–3.6 per 1000 live births. <italic>GLI family zinc finger 3</italic> (<italic>GLI3</italic>) is a classical causative gene of polydactyly, and serves as a pivotal transcription factor in the hedgehog signaling pathway, regulating the development of the anterior-posterior axis in limbs. Methods Three pedig...

Topics

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

Identifiers and source

Literature Corpus work: edb51453-7658-5c21-b0e9-d572afaf29b7
DOI: 10.21203/rs.3.rs-4269168/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactylyDOI 10.21203/rs.3.rs-4269168/v1Read

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

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

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

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

Mutational screening of GLI3, SHH, preZRS, and ZRS in 102 Chinese children with nonsyndromic polydactyly.Semantic proximity Read

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

Genetic overview of postaxial polydactyly: Updated classificationSemantic proximity Read

GLI3 ‐related polydactyly: a reviewSemantic proximity Read

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

Advances in the molecular genetics of non-syndromic polydactyly.Semantic proximity Read