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View article: CRB2-Related Syndrome in Two New Patients: Three Novel Variants
CRB2-Related Syndrome in Two New Patients: Three Novel Variants Open
Introduction: The Crumbs homolog-2 (CRB2)-related syndrome is an extremely rare genetic disorder characterized by congenital hydrocephalus, steroid-resistant nephrotic syndrome, and cardiac anomalies. It is caused by biallelic variants in …