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References

1. Ausavarat S, Tanpaiboon P, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V.Two novel EBP mutations in Conradi-Hünermann-Happle syndrome. Eur J Dermatol.2008 Jul-Aug;18(4):391-3. doi: 10.1684/ejd.2008.0433.
2. Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR,Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D. Mutations in the gene encoding 3beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominantConradi-Hünermann syndrome. Nat Genet. 1999 Jul;22(3):291-4.
3. Furtado LV, Bayrak-Toydemir P, Hulinsky B, Damjanovich K, Carey JC, Rope AF. Anovel X-linked multiple congenital anomaly syndrome associated with an EBPmutation. Am J Med Genet A. 2010 Nov;152A(11):2838-44. doi: 10.1002/ajmg.a.33674.
4. Herman GE, Kelley RI, Pureza V, Smith D, Kopacz K, Pitt J, Sutphen R,Sheffield LJ, Metzenberg AB. Characterization of mutations in 22 females withX-linked dominant chondrodysplasia punctata (Happle syndrome). Genet Med. 2002Nov-Dec;4(6):434-8.
5. Ikegawa S, Ohashi H, Ogata T, Honda A, Tsukahara M, Kubo T, Kimizuka M,Shimode M, Hasegawa T, Nishimura G, Nakamura Y. Novel and recurrent EBP mutationsin X-linked dominant chondrodysplasia punctata. Am J Med Genet. 2000 Oct2;94(4):300-5. Review.
6. Milunsky JM, Maher TA, Metzenberg AB. Molecular, biochemical, and phenotypicanalysis of a hemizygous male with a severe atypical phenotype for X-linkeddominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. Am J Med Genet A. 2003 Jan 30;116A(3):249-54.
7. Steijlen PM, van Geel M, Vreeburg M, Marcus-Soekarman D, Spaapen LJ,Castelijns FC, Willemsen M, van Steensel MA. Novel EBP gene mutations inConradi-Hünermann-Happle syndrome. Br J Dermatol. 2007 Dec;157(6):1225-9.