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Author

E. Alharbi

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Case report Open access Oct 2026

A Novel Homozygous Variant Associated With Distinct Clinical Phenotypes of SDR9C7 Nonsyndromic Epidermal Differentiation Disorder in Two Affected Patients From a Consanguineous Saudi Family

ABSTRACT Background Nonsyndromic Epidermal Differentiation Disorders (nEDD) are a group of heterogeneous disorders characterized by scaling and erythema. Pathogenic variants in SDR9C7 cause SDR9C7‐nEDD. We report two affected siblings from a consanguineous Saudi family presenting with distinct clinical phenotypes. The...

Faisal Almalki, Zaker Khoj, E. Alharbi et al. · 0 citations

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