Associated Papers
Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.
Wang RY et al.
Journal of Orthopaedic Surgery and Research, 2024
39080720 (PubMed )
Supplement: 13018_2024_4928_MOESM1_ESM.xlsx › Sheet1
A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.
Wang Y et al.
Molecular Genetics & Genomic Medicine, 2022
35546307 (PubMed )
Supplement: MGG3-10-e1968-s002.xlsx › table
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.
Sczakiel HL et al.
Clinical Genetics, 2021
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.
Baas M et al.
Journal of Medical Genetics, 2021
32591344 (PubMed )
Supplement: jmedgenet-2020-106948supp001.pdf
Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations.
Jamsheer A et al.
Journal of Applied Genetics, 2012
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