Lymphedema–distichiasis syndrome

Lymphedema–distichiasis syndrome is a medical condition associated with the FOXC2 gene.[2]:849 People with this hereditary condition have a double row of eyelashes, which is called distichiasis, and a risk of swollen limbs due to problems in the lymphatic system.

Lymphedema–distichiasis syndrome
Other namesLymphedema with distichiasis[1]
Lymphedema–distichiasis syndrome is inherited in an autosomal dominant manner

See also

Notes
  1. "Lymphedema-distichiasis syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 21 April 2019.
  2. James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
  3. Rakhmanov, Yeltay; Maltese, Paolo Enrico; Paolacci, Stefano; Marinelli, Carla; Bertelli, Matteo (2018-09-01). "Genetic testing for lymphedema-distichiasis syndrome". The EuroBiotech Journal. 2 (s1): 13–15. doi:10.2478/ebtj-2018-0026. ISSN 2564-615X.
  4. Kolin, Talia (1991-07-01). "Hereditary Lymphedema and Distichiasis". Archives of Ophthalmology. 109 (7): 980. doi:10.1001/archopht.1991.01080070092042. ISSN 0003-9950. PMC 6693661. PMID 2064580.
  5. Tavian, D (2016). "FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function". Oncotarget. 7 (34): 54228–54239. doi:10.18632/oncotarget.9797. PMID 27276711.
  6. Fang, Jianming; Dagenais, Susan L.; Erickson, Robert P.; Arlt, Martin F.; Glynn, Michael W.; Gorski, Jerome L.; Seaver, Laurie H.; Glover, Thomas W. (December 2000). "Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome". The American Journal of Human Genetics. 67 (6): 1382–1388. doi:10.1086/316915. ISSN 0002-9297. PMC 1287915. PMID 11078474.
  7. van Steensel, M.A.M.; Damstra, R.J.; Heitink, M.; Bladergroen, R.S.; Veraart, J.; Steijlen, Peter M.; van Geel, M. (December 2009). "Novel missense mutations in theFOXC2gene alter transcriptional activity". Human Mutation. 30 (12): E1002–E1009. doi:10.1002/humu.21127. ISSN 1059-7794. PMID 19760751.
  8. Mansour, Sahar; Brice, Glen W.; Jeffery, Steve; Mortimer, Peter (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Lymphedema-Distichiasis Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301630, retrieved 2020-04-15
  9. "Lymphedema-Distichiasis Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2020-04-15.
  10. Reference, Genetics Home. "Lymphedema-distichiasis syndrome". Genetics Home Reference. Retrieved 2020-04-15.

References
Classification
External resources
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