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Rett's syndrome: characterization of respiratory patterns and sleep.
Glaze DG, Frost JD Jr, Zoghbi HY, Percy AK. Glaze DG, et al. Ann Neurol. 1987 Apr;21(4):377-82. doi: 10.1002/ana.410210410. Ann Neurol. 1987. PMID: 3579223
Rett's syndrome is a progressive disorder that occurs in females and is characterized by autistic behavior, dementia, ataxia, loss of purposeful use of the hands, and seizures. Patients with Rett's syndrome have been observed to have stereotyped hand movements (hand-washin …
Rett's syndrome is a progressive disorder that occurs in females and is characterized by autistic behavior, dementia, ataxia, loss of purpos …
Clinical study of two brothers with a novel 33 bp duplication in the ARX gene.
Demos MK, Fullston T, Partington MW, Gécz J, Gibson WT. Demos MK, et al. Am J Med Genet A. 2009 Jul;149A(7):1482-6. doi: 10.1002/ajmg.a.32851. Am J Med Genet A. 2009. PMID: 19507262
Here, we report on a novel pathogenic variant of a tandem 33 bp duplication that is predicted to result in an expansion of polyalanine tract 2 in two brothers with mental retardation, epilepsy, dystonia, and the novel feature of intermittent hyperventilation. …
Here, we report on a novel pathogenic variant of a tandem 33 bp duplication that is predicted to result in an expansion of polyalanin …