Rett syndrome is a neurodevelopmental disorder that primarily affects girls, most of whom have mutations in the transcription regulatory gene MECP2. However, mutations in MECP2 also have been ...

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Studies in patients with Rett syndrome revealed that mutations are almost exclusively of paternal origin. [29] The mutations in MECP2 are obviously a product of spermatogenesis, because the father ...

Rett syndrome is a devastating neurological disorder caused mainly by mutations in the MECP2 gene found on the X chromosome. The disease causes deficits in brain function that lead to behavioural ...

For example, some of the mutations behind Rett syndrome, a rare neurodevelopmental disorder, prevent a specific protein from binding to DNA. This process would normally enable the protein to turn ...

People are more likely to have autism if they have related genetic disorders, such as fragile X syndrome ... the chance of spontaneous genetic mutations increases with age. There is some evidence ...

J of Med Econ. 26(1), 1570–1580. 5 Amir RE, Van den Veyver IB, Wan M, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999; 23(2): ...