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
New insights into genotype-phenotype correlation for GLI3 mutations.
Démurger F et al.
European Journal of Human Genetics : Ejhg, 2015
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
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Johnston JJ et al.
Human Mutation, 2010
Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome.
Kos S et al.
Pediatric Radiology, 2008
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
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