Article
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.
BMC neurology - 2 Dec 2021
Shah Jhanvi, Patel Harsh, Jain Deepika, Sheth Frenny, Sheth Harsh
Abstract excerpt
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 receptive language impairment, severe intellectual disability and gait and truncal apraxia/ ataxia. It is caused due to mutations...
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