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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Nature Genetics, 1999R. Amir +5 more
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The Journal of the Singapore Paediatric Society, 1992
Five girls, aged 2.5 years to 10 years, with Rett Syndrome are presented. The girls (four Chinese and one Indian) demonstrate the classic features of developmental regression with dementia, loss of hand function and stereotyped hand movements. There are as yet no pathognomonic laboratory markers and diagnosis can be difficult especially in the early ...
C T, Choong, K R, Lyen
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Five girls, aged 2.5 years to 10 years, with Rett Syndrome are presented. The girls (four Chinese and one Indian) demonstrate the classic features of developmental regression with dementia, loss of hand function and stereotyped hand movements. There are as yet no pathognomonic laboratory markers and diagnosis can be difficult especially in the early ...
C T, Choong, K R, Lyen
openaire +1 more source
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
Nature, 2010Hsiao-Tuan Chao +2 more
exaly
Rett syndrome: a complex disorder with simple roots
Nature Reviews Genetics, 2015Matthew J Lyst, Adrian Peter Bird
exaly