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Xu, C. Lowe Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4564 (accessed on 27 September 2026).
Xu C. Lowe Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4564. Accessed September 27, 2026.
Xu, Camila. "Lowe Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4564 (accessed September 27, 2026).
Xu, C. (2020, December 24). Lowe Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4564
Xu, Camila. "Lowe Syndrome." Encyclopedia. Web. 24 December, 2020.
Lowe Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/lowe-syndrome

Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males.

genetic conditions

References

  1. Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR,Nussbaum RL. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature. 1992 Jul16;358(6383):239-42.
  2. Erdmann KS, Mao Y, McCrea HJ, Zoncu R, Lee S, Paradise S, Modregger J,Biemesderfer D, Toomre D, De Camilli P. A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway. Dev Cell. 2007 Sep;13(3):377-90.
  3. Lewis RA, Nussbaum RL, Brewer ED. Lowe Syndrome. 2001 Jul 24 [updated 2019 Apr18]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1480/
  4. Loi M. Lowe syndrome. Orphanet J Rare Dis. 2006 May 18;1:16. Review.
  5. Lowe M. Structure and function of the Lowe syndrome protein OCRL1. Traffic.2005 Sep;6(9):711-9. Review.
  6. Schurman SJ, Scheinman SJ. Inherited cerebrorenal syndromes. Nat Rev Nephrol. 2009 Sep;5(9):529-38. doi: 10.1038/nrneph.2009.124. Review.
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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 : Camila Xu
View Times: 934
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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