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Page 1
Cole Disease Results from Mutations in ENPP1.
Eytan O, Morice-Picard F, Sarig O, Ezzedine K, Isakov O, Li Q, Ishida-Yamamoto A, Shomron N, Goldsmith T, Fuchs-Telem D, Adir N, Uitto J, Orlow SJ, Taieb A, Sprecher E. Eytan O, et al. Among authors: fuchs telem d. Am J Hum Genet. 2013 Oct 3;93(4):752-7. doi: 10.1016/j.ajhg.2013.08.007. Epub 2013 Sep 26. Am J Hum Genet. 2013. PMID: 24075184 Free PMC article.
Familial pityriasis rubra pilaris is caused by mutations in CARD14.
Fuchs-Telem D, Sarig O, van Steensel MA, Isakov O, Israeli S, Nousbeck J, Richard K, Winnepenninckx V, Vernooij M, Shomron N, Uitto J, Fleckman P, Richard G, Sprecher E. Fuchs-Telem D, et al. Am J Hum Genet. 2012 Jul 13;91(1):163-70. doi: 10.1016/j.ajhg.2012.05.010. Epub 2012 Jun 14. Am J Hum Genet. 2012. PMID: 22703878 Free PMC article.
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
Sarig O, Nahum S, Rapaport D, Ishida-Yamamoto A, Fuchs-Telem D, Qiaoli L, Cohen-Katsenelson K, Spiegel R, Nousbeck J, Israeli S, Borochowitz ZU, Padalon-Brauch G, Uitto J, Horowitz M, Shalev S, Sprecher E. Sarig O, et al. Am J Hum Genet. 2012 Aug 10;91(2):337-42. doi: 10.1016/j.ajhg.2012.06.003. Epub 2012 Jul 26. Am J Hum Genet. 2012. PMID: 22840363 Free PMC article.
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.
Basel-Vanagaite L, Sarig O, Hershkovitz D, Fuchs-Telem D, Rapaport D, Gat A, Isman G, Shirazi I, Shohat M, Enk CD, Birk E, Kohlhase J, Matysiak-Scholze U, Maya I, Knopf C, Peffekoven A, Hennies HC, Bergman R, Horowitz M, Ishida-Yamamoto A, Sprecher E. Basel-Vanagaite L, et al. Am J Hum Genet. 2009 Aug;85(2):254-63. doi: 10.1016/j.ajhg.2009.07.001. Epub 2009 Jul 23. Am J Hum Genet. 2009. PMID: 19631308 Free PMC article.
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.
Sarig O, Goldsher D, Nousbeck J, Fuchs-Telem D, Cohen-Katsenelson K, Iancu TC, Manov I, Saada A, Sprecher E, Mandel H. Sarig O, et al. Among authors: fuchs telem d. Am J Med Genet A. 2013 Sep;161A(9):2204-15. doi: 10.1002/ajmg.a.36059. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918762
Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.
Eytan O, Fuchs-Telem D, Mevorach B, Indelman M, Bergman R, Sarig O, Goldberg I, Adir N, Sprecher E. Eytan O, et al. Among authors: fuchs telem d. J Invest Dermatol. 2014 Jun;134(6):1752-1754. doi: 10.1038/jid.2014.37. Epub 2014 Jan 24. J Invest Dermatol. 2014. PMID: 24463422 Free article. No abstract available.
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