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Genetic testing for lymphedema-distichiasis syndrome Cover

Genetic testing for lymphedema-distichiasis syndrome

Open Access
|Sep 2018

References

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  2. Yildirim-Toruner C, Subramanian K, El Manjra L, Chen E, Goldstein S, Vitale E. A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus. Am J Med Genet A 2004; 131(3): 281-86.
  3. Fang J, Dagenais SL, Erickson RP, Arlt MF, Glynn MW, Gorski JL, Seaver LH, Glover TW. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. Am J Hum Genet 2000; 67(6): 1382-1388.1107847410.1086/316915
  4. National Library of Medicine (US). Lymphedema-distichiasis syndrome. Bethesda (MD): The Library; Genetics Home Reference. 2014 (Internet).
  5. Brice G, Mansour S, Bell R, Collin JR, Child AH, Brady AF, Sarfarazi M, Burnand KG, Jeffery S, Mortimer P, Murday VA. Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet 2002; 39(7): 478-83.1211447810.1136/jmg.39.7.478
  6. http://www.genecards.org/cgi-bin/carddisppl?gene=FOXC2&keywords=foxc2#summaries
  7. Zhang Y, Zhang Y. Forkhead box C2 promotes the invasion ability of human trophoblast cells through Hedgehog (Hh) signaling pathway. Cell Biol Int. 2018; (Epub ahead of print).29465790
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Language: English
Page range: 13 - 15
Published on: Sep 19, 2018
Published by: European Biotechnology Thematic Network Association
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year

© 2018 Yeltay Rakhmanov, Paolo Enrico Maltese, Stefano Paolacci, Carla Marinelli, Matteo Bertelli, published by European Biotechnology Thematic Network Association
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.