A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome
Abstract Background Rett syndrome (RTT) is characterized by a normal perinatal period with a normal head size at birth followed by normal development for the first 6 months of life followed by gradual deceleration of head growth, loss of acquired purposeful hand skills, severe expressive and recepti...
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| Main Authors: | , , , , |
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| Format: | article |
| Language: | EN |
| Published: |
BMC
2021
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| Subjects: | |
| Online Access: | https://doaj.org/article/f714cd61c7c14c2a9478475d1bc45901 |
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