Associated Papers
New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical Report.
Bonilla-Navarrete S et al.
Molecular Genetics & Genomic Medicine, 2025
Pallister-Hall syndrome, GLI3, and kidney malformation.
McClelland K et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
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
Case Report: Whole-Exome Sequencing of Hypothalamic Hamartoma From an Infant With Pallister-Hall Syndrome Revealed Novel de novo Mutation in the GLI3.
Yang Y et al.
Frontiers in Surgery, 2021
New insights into genotype-phenotype correlation for GLI3 mutations.
Démurger F et al.
European Journal of Human Genetics : Ejhg, 2015
Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation.
Roscioli T et al.
American Journal of Medical Genetics. Part A, 2005
Gonadal mosaicism in severe Pallister-Hall syndrome.
Ng D et al.
American Journal of Medical Genetics. Part A, 2004
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