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...

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Detalles Bibliográficos
Autores principales: Shah, Jhanvi, Patel, Harsh, Jain, Deepika, Sheth, Frenny, Sheth, Harsh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
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

Internet

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

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