Associated Papers
Expanding the Phenotypic and Genotypic Spectrum of Postaxial Polydactyly: A Study of Four Consanguineous Pakistani Families.
Saeed T et al.
Genetic Testing and Molecular Biomarkers, 2025
A long-term glioblastoma survivor with Lynch syndrome: a case report of tumor molecular and microenvironment characterization.
Zhou Y et al.
Discover Oncology, 2025
40768092 (PubMed )
Supplement: 12672_2025_3361_MOESM1_ESM.xlsx › somatic
Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly.
Ahmad S et al.
Genes, 2023
Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly.
Yousaf M et al.
Congenital Anomalies, 2020
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
Palencia-Campos A et al.
Human Mutation, 2020
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.
Palencia-Campos A et al.
Human Molecular Genetics, 2017
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