Saul Wilson Syndrome: A Case Report With New Features in Saudi Arabia
Saul Wilson syndrome is an extremely rare genetic disorder caused by heterozygous de novo mutations in the <i>COG4</i> 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.
Authors
- Saad Abdullah Bin Owaimer
- Eissa Faqeih
- Leen Abu‐Safieh
- Fatimah H. Abusrair
- May R. Mutlaq
Institutions
- Sulaiman Al Rajhi Colleges (SA)
- King Fahd Medical City (SA)
- Dar Al Uloom University (SA)
- National Guard Health Affairs (SA)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2026-02-01
- DOI
- https://doi.org/10.1002/ccr3.71834
- Primary Topic
- Congenital limb and hand anomalies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- King Fahad Medical City