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SRY and Turner syndrome are reported together in 1 article.
Gene
SRY
- HGNC
- HGNC:11311
5articles
5mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Turner syndrome
23articles
23mentions
10co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Clinical and genetic characteristics of disorders of sex development in Sudanese patients.
PMID 38904941 | DOI 10.29063/ajrh2024/v28i4.2 · African journal of reproductive health · 2024 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SRY | “We studied 60 patients with DSD using clinical data, cytogenetics, and PCR for the SRY gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | Turner syndrome | “5αR2D-DSD was seen in 43.3%, gonadal dysgenesis in 21.7%, Ovotesticular syndrome in 6.7%, Swyer and Turner syndrome in 5% each, and Androgen Insensitivity Syndrome (AIS) in 3.3%.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “We studied 60 patients with DSD using clinical data, cytogenetics, and PCR for the SRY gene. There was a high percentage of consanguineous parents (85%). In conclusion, DSD in Sudan has a distinct profile with late presentation, dominated by 5αR2D-DSD due to the increased consanguineous marriage, and FGM represents a significant risk for DSD patients.” | 0.80 | saudi_context_rules_v1 |