Associated Papers
Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report.
Leonardi R et al.
Global Medical Genetics, 2025
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.
Qin Y et al.
Bmc Medical Genomics, 2023
Polydactyly: Clinical and molecular manifestations.
Kyriazis Z et al.
World Journal of Orthopedics, 2023
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
Advances in the molecular genetics of non-syndromic polydactyly.
Deng H et al.
Expert Reviews in Molecular Medicine, 2015
New insights into genotype-phenotype correlation for GLI3 mutations.
Démurger F et al.
European Journal of Human Genetics : Ejhg, 2015
De novo GLI3 mutation in esophageal atresia: reproducing the phenotypic spectrum of Gli3 defects in murine models.
Yang L et al.
Biochimica Et Biophysica Acta, 2014
The clinical atlas of Greig cephalopolysyndactyly syndrome.
Balk K et al.
American Journal of Medical Genetics. Part A, 2008
Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.
Fujioka H et al.
Clinical Genetics, 2005
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