Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status.

doi:10.1177/088307389801300907

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Article

Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status.

Journal of child neurology - 1 Sept 1998

Ellaway C, Buchholz T, Smith A, Leonard H, Christodoulou J

Abstract excerpt

Rett syndrome and Angelman syndrome are neurodevelopmental disorders characterized by severe intellectual disability, microcephaly, speech disturbance, movement disorders with gait and/or truncal ataxia, and occasionally a similar facial appearance. Both conditions can be difficult to diagnose in...

Topics

Adolescent
Adult
Angelman Syndrome
Child
Child, Preschool
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 15
DNA Methylation
Diagnosis, Differential
Female
Humans
Male
Phenotype
Rett Syndrome

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