Associated Papers
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
Select a paper to view details