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Phenotype profile

Turner syndrome

SaudiVarKB evidence summary derived from retained literature mentions.

22Phenotype mentions
22Publications
10Associated gene records
2Associated variant records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
COL1A2HGNC:219811
BDNFHGNC:103311
SHOXHGNC:1085311
KCNQ1HGNC:629411
SDSHGNC:1069111
PRKXHGNC:944111
IGHDHGNC:548011
ROBO1HGNC:1024911
KCNE1HGNC:624011
SRYHGNC:1131111

Associated variant records

Co-mentioned in the same publications
VariantIdentifier / contextArticlesMentions
G196AG196A11
rs6265rs626511

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Population recordCohort 1811
Population recordCohort 1411
Population recordCohort 86511
Population recordCohort 3811
Population recordCohort 5211
Population recordCohort 25211
Saudi ArabiaCohort 16611
Population recordCohort 49811
Saudi ArabiaCohort 4111
RiyadhCohort 5211
Population recordCohort 6011
Saudi Arabia · JeddahCohort 21211
Saudi ArabiaCohort 68211

Supporting publications

22 records
  1. 2026Clinical utility of chromosomal microarray and whole exome sequencing in evaluating genetic causes for pregnancy loss using products of conception specimens.Journal of perinatal medicine1 mentions
  2. 2025Cardiovascular outcomes and aortic growth in pregnant women with Turner syndrome: data from the ESC EORP Registry Of Pregnancy And Cardiac disease (ROPAC) III.European journal of preventive cardiology1 mentions
  3. 2025Detection of Chromosomal Aneuploidy Using Exome Sequencing.Genes1 mentions
  4. 2025Anti-Müllerian hormone as a biomarker of ovarian function and spontaneous puberty in Turner syndrome: a systematic review.Frontiers in endocrinology1 mentions
  5. 2024Cardiovascular Disease and Inpatient Complications in Turner Syndrome: A Propensity Score Analysis.Texas Heart Institute journal1 mentions
  6. 2024Clinical and genetic characteristics of disorders of sex development in Sudanese patients.African journal of reproductive health1 mentions
  7. 2024Diagnostic challenge of cutis Verticis Gyrata (CVG) in a patient presenting clinical features of Noonan or turner syndrome.Molecular genetics and metabolism reports1 mentions
  8. 2023Brain-derived neurotrophic factor G196A (rs6265) gene polymorphism increases Turner syndrome susceptibility.Biotechnology & genetic engineering reviews1 mentions
  9. 2022The long-term growth, cost-effectiveness, and glycemic effects of growth hormone therapy on children born small for gestational age over 10 years: a retrospective cohort study.Journal of pediatric endocrinology & metabolism : JPEM1 mentions
  10. 2021Hypospadias in ring X syndrome.European journal of medical genetics1 mentions
  11. 2021Network-based analysis of key regulatory genes implicated in Type 2 Diabetes Mellitus and Recurrent Miscarriages in Turner Syndrome.Scientific reports1 mentions
  12. 2021Caries intensity and Streptococcus mutans in the saliva of patients with Turner syndrome.The Saudi dental journal1 mentions
  13. 2020Effect of growth hormone treatment on children with idiopathic short stature (ISS), idiopathic growth hormone deficiency (IGHD), small for gestational age (SGA) and Turner syndrome (TS) in a tertiary care center.Acta bio-medica : Atenei Parmensis1 mentions
  14. 2020The Prevalence of Congenital Heart Diseases in Syndromic Children at King Khalid National Guard Hospital from 2005 to 2016.Cureus1 mentions
  15. 2019Achieving Optimal Short- and Long-term Responses to Paediatric Growth Hormone Therapy.Journal of clinical research in pediatric endocrinology1 mentions
  16. 2019Oxandrolone for growth hormone-treated girls aged up to 18 years with Turner syndrome.The Cochrane database of systematic reviews1 mentions
  17. 2015Prevalence of selected congenital anomalies in Saudi children: a community-based study.Annals of Saudi medicine1 mentions
  18. 2014Turner Syndrome Genotype and phenotype and their effect on presenting features and timing of Diagnosis.International journal of health sciences1 mentions
  19. 2010Ambiguous genitalia in neonates: a 4-year prospective study in a localized area.Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit1 mentions
  20. 2010A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient.BMC medical genetics1 mentions
  21. 2004Ovarian mucinous cystadenoma in a female with Turner syndrome.Saudi medical journal1 mentions
  22. 1999Spectrum of genetic disorders and the impact on health care delivery: an introduction.Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit1 mentions