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Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.
Meyer J, Südbeck P, Held M, Wagner T, Schmitz ML, Bricarelli FD, Eggermont E, Friedrich U, Haas OA, Kobelt A, Leroy JG, Van Maldergem L, Michel E, Mitulla B, Pfeiffer RA, Schinzel A, Schmidt H, Scherer G. Meyer J, et al. Among authors: scherer g. Hum Mol Genet. 1997 Jan;6(1):91-8. doi: 10.1093/hmg/6.1.91. Hum Mol Genet. 1997. PMID: 9002675 Free article.
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostásy M, Kramer M, Kaltenbach S, Rösler B, Georg I, Troppmann E, Teichmann AC, Salfelder A, Widholz SA, Wieacker P, Hiort O, Camerino G, Radi O, Wegner M, Arnold HH, Scherer G. Kim GJ, et al. Among authors: scherer g. J Med Genet. 2015 Apr;52(4):240-7. doi: 10.1136/jmedgenet-2014-102864. Epub 2015 Jan 20. J Med Genet. 2015. PMID: 25604083
An SRY-negative 47,XXY mother and daughter.
Röttger S, Schiebel K, Senger G, Ebner S, Schempp W, Scherer G. Röttger S, et al. Among authors: scherer g. Cytogenet Cell Genet. 2000;91(1-4):204-7. doi: 10.1159/000056845. Cytogenet Cell Genet. 2000. PMID: 11173857
401 results