Rett syndrome.
Rett syndrome is a unique and puzzling disorder noted in females, and is possibly caused by fundamental failures in critical brain connectivity during early infancy. Recent reports expand our understanding of the Rett syndrome phenotype, continue the pattern of inconsistent or inconclusive metabolic and genetic results, and extend observations regarding abnormal brain cytoarchitecture.
Percy
A K
AK
Department of Pediatrics, University of Alabama at Birmingham, USA.
D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002893:Chromosomes, Human, Pair 3; D003937:Diagnosis, Differential; D003952:Diagnostic Imaging; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015518:Rett Syndrome / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D014178:Translocation, Genetic / Q000235:genetics; D014960:X Chromosome