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Mayer Rokitansky Syndrome

Mayer–Rokitansky–Kuster–Hauser syndrome: Recent clinical and genetic findings

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Pages 8-11 | Received 19 May 2008, Accepted 29 Jun 2008, Published online: 07 Jul 2009

References

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  • Oppelt P, Strissel P L, Kellermann A, Seeber S, Humeny A, Beckmann M W, Strick R. Correlation of DNA sequence variations of the entire anti-Müllerian hormone (AMH) gene promoter and AMH protein expression with the Mayer–Rokitansky–Kuster–Hauser syndrome. Hum Reprod 2005; 20: 149–157
  • Van Lingen B L, Reindollar R H, Davis A J, Gray M R. Further evidence that the WT1 gene does not have a role in the development of the derivatives of the Mullerian duct. Am J Obstet Gynecol 1998; 179: 597–603
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  • Lindner T H, Njolstad P R, Horikawa Y, Bostad L, Bell G I, Sovik O. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1β. Hum Mol Genet 1999; 8: 2001–2008
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  • Biason-Lauber A, De Filippo G, Konrad D, Scarano G, Nazzaro A, Schoenle E J. WNT4 deficiency – a clinical phenotype distinct from the classic Mayer–Rokitansky–Kuster–Hauser syndrome: a case report. Hum Reprod 2007; 22: 224–229
  • Philibert P, Biason-Lauber A, Rouzier R, Pienkowski C, Paris F, Konrad D, Schoenle E, Sultan C. Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and Mullerian duct abnormalities: a French collaborative study. J Clin Endocrinol Metab 2008; 93: 895–900

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