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Saul Wilson Syndrome: A Case Report With New Features in Saudi Arabia

Year: 2026

Type: article

Abstract: ABSTRACT Saul Wilson syndrome is an extremely rare genetic disorder caused by heterozygous de novo mutations in the COG4 gene. We report the first case from Saudi Arabia with previously unreported facial dysmorphic features, expanding the known phenotypic spectrum and emphasizing the importance of recognizing phenotypic variability in rare disorders.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.71834

Authors: Saad A. Bin Owaimer, Fatimah H. Abusrair, May R. Mutlaq, Eissa A. Faqeih, Leen Abu‐Safieh

Institutions: National Guard Health Affairs, Dar Al Uloom University, King Fahd Medical City

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820