サウル・ウィルソン症候群:サウジアラビアにおける新たな特徴を持つ症例報告
Saad A Bin Owaimer1, Fatimah H Abusrair2, May R Mutlaq3
1Physician, General Pediatrics National Guard Hospital Riyadh Kingdom of Saudi Arabia.
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.
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