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WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, Nagase T, Tekin M, Kim SH, Kim CH, Ropers HH, Gusella JF, Kalscheuer V, Choi CY, Layman LC. Kim HG, et al. Among authors: bick dp. Am J Hum Genet. 2010 Oct 8;87(4):465-79. doi: 10.1016/j.ajhg.2010.08.018. Am J Hum Genet. 2010. PMID: 20887964 Free PMC article.
Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome.
Bick D, Franco B, Sherins RJ, Heye B, Pike L, Crawford J, Maddalena A, Incerti B, Pragliola A, Meitinger T, Ballabio A. Bick D, et al. N Engl J Med. 1992 Jun 25;326(26):1752-5. doi: 10.1056/NEJM199206253262606. N Engl J Med. 1992. PMID: 1594017 Free article. No abstract available.
Mutation analysis of the EMX2 gene in Kallmann's syndrome.
Taylor HS, Block K, Bick DP, Sherins RJ, Layman LC. Taylor HS, et al. Among authors: bick dp. Fertil Steril. 1999 Nov;72(5):910-4. doi: 10.1016/s0015-0282(99)00376-3. Fertil Steril. 1999. PMID: 10560999 Free article.
131 results