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
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
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
A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma.
Courtney E et al.
Human Genome Variation, 2018
Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature.
Narumi Y et al.
American Journal of Medical Genetics. Part A, 2010
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
Radhakrishna U et al.
American Journal of Human Genetics, 1999
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