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Immunopathol Persa. 2026;In Progress; 12(2): e43980. doi: 10.34172/ipp.2025.43980

Case Report

A novel gross deletion in SMARCAL1 impairs DNA replication fork regression, leading to severe Schimke immuno-osseous dysplasia; a literature review and an integrated study of clinical, genetic, and protein-protein interaction analysis

Mohammad Saberi ¹ , Morteza Talebi ² , Ali Ghorbani ³ , Azadeh Reshadmanesh ⁴ , Samin Sharafian ⁵ , Zahra Chavoshzadeh ⁵ , Masumeh Mohkam ⁶ , Arefeh Zahmatkesh ⁷ , Paniz Pourpashang ^8,9 *

Case Report

A novel gross deletion in SMARCAL1 impairs DNA replication fork regression, leading to severe Schimke immuno-osseous dysplasia; a literature review and an integrated study of clinical, genetic, and protein-protein interaction analysis

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