Hypotrichosis–lymphedema–telangiectasia syndrome

Hypotrichosis–lymphedema–telangiectasia syndrome
Classification and external resources
OMIM 607823

Hypotrichosis–lymphedema–telangiectasia syndrome is a congenital condition characterized by an autosomal dominant or autosomal recessive inheritance pattern[1][2]

It is associated with SOX18.[3]

See also

References

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  2. ^ http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=766
  3. ^ Downes M, François M, Ferguson C, Parton RG, Koopman P (August 2009). "Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation". Hum. Mol. Genet. 18 (15): 2839–50. doi:10.1093/hmg/ddp219. PMID 19429912. http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=19429912.