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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Autores principales: | Jhanvi Shah, Harsh Patel, Deepika Jain, Frenny Sheth, Harsh Sheth |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
BMC
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/f714cd61c7c14c2a9478475d1bc45901 |
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