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
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 langu...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638266/ https://www.ncbi.nlm.nih.gov/pubmed/34856927 http://dx.doi.org/10.1186/s12883-021-02500-5 |