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Xu, R. PPM-X Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4870 (accessed on 25 September 2026).
Xu R. PPM-X Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4870. Accessed September 25, 2026.
Xu, Rita. "PPM-X Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4870 (accessed September 25, 2026).
Xu, R. (2020, December 24). PPM-X Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4870
Xu, Rita. "PPM-X Syndrome." Encyclopedia. Web. 24 December, 2020.
PPM-X Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/ppm-x-syndrome

PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability with impaired language development.

genetic conditions

References

  1. Francke U. Mechanisms of disease: neurogenetics of MeCP2 deficiency. Nat Clin Pract Neurol. 2006 Apr;2(4):212-21. Review.
  2. Gonzales ML, LaSalle JM. The role of MeCP2 in brain development andneurodevelopmental disorders. Curr Psychiatry Rep. 2010 Apr;12(2):127-34. doi:10.1007/s11920-010-0097-7. Review.
  3. Lambert S, Maystadt I, Boulanger S, Vrielynck P, Destrée A, Lederer D,Moortgat S. Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4generation family with X-linked intellectual disability and spasticity. Eur J MedGenet. 2016 Oct;59(10):522-5. doi: 10.1016/j.ejmg.2016.07.003.
  4. Psoni S, Sofocleous C, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E,Fryssira-Kanioura H. Phenotypic and genotypic variability in four males withMECP2 gene sequence aberrations including a novel deletion. Pediatr Res. 2010May;67(5):551-6. doi: 10.1203/PDR.0b013e3181d4ecf7.
  5. Villard L. MECP2 mutations in males. J Med Genet. 2007 Jul;44(7):417-23.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 1.2K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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