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
Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.
Pu X et al.
Cell & Bioscience, 2023
37964396 (PubMed )
Supplement: 13578_2023_1156_MOESM12_ESM.xls › ____
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
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
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
Johnston JJ et al.
American Journal of Human Genetics, 2005
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.
Debeer P et al.
American Journal of Medical Genetics. Part A, 2003
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