Population record
Saudi Arabia · 3 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Saudi Arabia | “Monogenic interferon-mediated diseases: novel phenotype and genotype characteristics from a Saudi population. We aimed to describe the genotype and phenotype findings in Saudi children diagnosed with autoinflammatory interferonopathy and to report novel findings. RESULTS: A total of 20 patients (11 females) were included in the study. The rates of consanguinity and family history of affected members were high (88% and 47%, respectively).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “BACKGROUND: Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature. CASE PRESENTATION: We have assessed one consanguineous Saudi family with typical features of VDEGS.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Lamellar ichthyosis in a Saudi kindred. A series of 20 patients aged 4-16 years presented with lamellar ichthyosis at the dermatology unit of King Faisal Hospital at Taif in western Saudi Arabia. The tribe is known for consanguineous marriages.” | 0.95 | saudi_context_rules_v1 |