Prenatal diagnosis of campomelic dysplasia due to SOX9 deletion
Author:
Affiliation:
1. Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey;
2. Department of Obstetrics and Gynecology, Faculty of Medicine, Gazi University, Ankara, Turkey
Publisher
Informa UK Limited
Subject
Obstetrics and Gynaecology
Link
https://www.tandfonline.com/doi/pdf/10.1080/01443615.2019.1601165
Reference8 articles.
1. Mutations inSRY andSOX9: Testis-determining genes
2. Screening and Invasive Testing in Twins
3. Campomelic syndrome and deletion of SOX9
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Syndromes with Lethal or Sublethal Evolution;Prenatal Diagnosis of Fetal Osteopathologies;2024
2. Unveiling the role of SRY in male-biased cancers: Insights into the molecular basis of sex disparities in high-grade glioma and melanoma;2023-07-15
3. Case report: A de novo Non-sense SOX9 mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia;Frontiers in Pediatrics;2023-01-18
4. Case report: Cystic hygroma accompanied with campomelic dysplasia in the first trimester caused by haploinsufficiency with SOX9 deletion;Frontiers in Genetics;2022-08-29
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