| Autor: |
Cruz, M. Pérez, Masoller, N., Illa, M., Monterde, E., Chiari, M. Gomez, Fons, C., Nadal, A., Borrell, A., Eixarch, E. |
| Předmět: |
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| Zdroj: |
Ultrasound in Obstetrics & Gynecology; Sep2024 Supplement 1, Vol. 64, p137-137, 1p |
| Abstrakt: |
This article discusses a case study involving a prenatal diagnosis of megalencephaly, a condition characterized by an abnormally large brain, caused by a postzygotic mutation in the PIK3R2 gene. The study highlights the importance of brain biopsy after termination of pregnancy in cases of malformations of cortical development (MCDs) and emphasizes the need for genetic counseling. The findings suggest that most MCDs are caused by genetic mutations that affect the development of the cerebral cortex, and some cases involve somatic mosaicism. The article provides valuable insights for researchers and healthcare professionals studying fetal cortical malformations. [Extracted from the article] |
| Databáze: |
Complementary Index |
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