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PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.
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 …
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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 …
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