التفاصيل البيبلوغرافية
| العنوان: |
EP18.30: Enlarged yolk sac as a potential new phenotype of RAF1 Noonan syndrome. |
| المؤلفون: |
Krischer, B., Bahr, A., Ivanovski, I., Kraemer, D., Kapfhammer, E., Hodel, M., Rauch, A. |
| المصدر: |
Ultrasound in Obstetrics & Gynecology; Sep2024 Supplement 1, Vol. 64, p290-291, 2p |
| مصطلحات موضوعية: |
MISCARRIAGE, YOLK sac, PREGNANCY outcomes, NOONAN syndrome, SHORT stature |
| مستخلص: |
This article discusses a case study involving a patient with an enlarged yolk sac (YS) during pregnancy. While an enlarged YS is typically associated with adverse pregnancy outcomes and aneuploidies, this particular case revealed a maternally inherited variant in the RAF1 gene, leading to Noonan syndrome (NS). NS is a genetically and clinically diverse disorder, and this case suggests that there may be a subgroup of enlarged YS cases with a different etiology. The patient delivered a healthy child without any visible anomalies. [Extracted from the article] |
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| قاعدة البيانات: |
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