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PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.
Lindsay S, Splitt M, Edney S, Berney TP, Knight SJ, Davies KE, O'Brien O, Gale M, Burn J. Lindsay S, et al. Am J Hum Genet. 1996 Jun;58(6):1120-6. Am J Hum Genet. 1996. PMID: 8651288 Free PMC article.
We report a three-generation family manifesting a previously undescribed X-linked mental retardation syndrome. Four of the six moderately retarded males have had episodes of manic-depressive psychosis. The phenotype also includes pyramidal signs, Parkinsonian …
We report a three-generation family manifesting a previously undescribed X-linked mental retardation syndrome. Four of the six …
A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.
Klauck SM, Lindsay S, Beyer KS, Splitt M, Burn J, Poustka A. Klauck SM, et al. Am J Hum Genet. 2002 Apr;70(4):1034-7. doi: 10.1086/339553. Epub 2002 Feb 15. Am J Hum Genet. 2002. PMID: 11885030 Free PMC article.
We report here the genetic cause of the X-linked syndrome of psychosis, pyramidal signs, and macro-orchidism (PPM-X) in a three-generation family manifesting the disorder as a mutation in the methyl-CpG binding-protein 2 (MECP2) gene in Xq28. ...To date, descriptions have …
We report here the genetic cause of the X-linked syndrome of psychosis, pyramidal signs, and macro-orchidism (PPM-X) in a three-gener …
Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.
Lambert S, Maystadt I, Boulanger S, Vrielynck P, Destrée A, Lederer D, Moortgat S. Lambert S, et al. Eur J Med Genet. 2016 Oct;59(10):522-5. doi: 10.1016/j.ejmg.2016.07.003. Epub 2016 Jul 25. Eur J Med Genet. 2016. PMID: 27465203
However, MECP2 mutations have already been reported in surviving males with severe neonatal-onset encephalopathy, or with X-linked intellectual disability associated with psychosis, pyramidal signs, parkinsonian features and macro-orchidism (PPM-X syndrome; M …
However, MECP2 mutations have already been reported in surviving males with severe neonatal-onset encephalopathy, or with X-linked intell