Siblings with Rett Syndrome: A fatal male case and an asymptomatic female carrier
Background: Rett Syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, primarily affecting females. It was previously believed that male cases, although rare, frequently result in severe symptoms and early mortality due to hemizygosity of the X chromosome. However, recent studies show...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
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| Series: | Rare |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S295000872500033X |
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