Rett syndrome

Developmental and genetic diseases

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Rett syndrome

*Gene map locus Xq28

Autism, dementia, ataxia, and loss of purposeful hand use

RTS

RTT

Rett syndrome, atypical, CDKL5-related

Rett syndrome, preserved speech variant

[Clinical features: abnormal development from birth, a period of stagnation, followed by regression with loss of hand and social skills and development of hand stereotypies; deceleration in head growth; severe learning difficulties; gait dyspraxia]

[Inheritance: X-linked dominant]


Selective Cerebral Volume Reduction in Rett Syndrome: A Multiple-Approach MR Imaging Study	Selective Cerebral Volume Reduction in Rett Syndrome: A Multiple-Approach MR Imaging Study	White Matter Impairment in Rett Syndrome: Diffusion Tensor Imaging Study with Clinical Correlations
American Journal of Neuroradiology	American Journal of Neuroradiology	American Journal of Neuroradiology


Dendritic Cytoskeletal Protein Expression in Mental Retardation: An Immunohistochemical Study of the Neocortex in Rett Syndrome	Dendritic Cytoskeletal Protein Expression in Mental Retardation: An Immunohistochemical Study of the Neocortex in Rett Syndrome	Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome
Cerebral Cortex	Cerebral Cortex	European Journal of Human Genetics


Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients	Breaking the silence in Rett syndrome	A 15-year-old female with Rett syndrome
Journal of Medical Genetics	Nature Genetics	Scoliosis

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Edited by Aldo Campana, August 21, 2012