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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Auteurs principaux: Jhanvi Shah, Harsh Patel, Deepika Jain, Frenny Sheth, Harsh Sheth
Format: article
Langue:EN
Publié: BMC 2021
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Accès en ligne:https://doaj.org/article/f714cd61c7c14c2a9478475d1bc45901
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