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
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
41188636 (PubMed )
Supplement: 10875_2025_1951_MOESM1_ESM.xlsx › Table_S5_final
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
Tilemis FN et al.
Genes, 2023
Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7.
Tilemis FN et al.
Molecular Syndromology, 2023
A review of polydactyly and its inheritance: Connecting the dots.
Bubshait DK
Medicine, 2022
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
Estrada-Cuzcano A et al.
Human Mutation, 2020
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