tailieunhanh - Báo cáo khoa hoc:" Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina)"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina) | Journal of Negative Results in BioMedicine BioMed Central Brief report Open Access Role of HOXA7 to HOXA13 and PBXI genes in various forms of MRKH syndrome congenital absence of uterus and vagina Agnès Burel1 Thomas Mouchel2 Sylvie Odent3 Filiz Tiker4 Bertrand Knebelmann5 Isabelle Pellerin1 and Daniel Guerrier 1 Address 1CNRS UMR 6061 Génétique et Développement Université de Rennes 1 Groupe IPD IFR140 GFAS Faculté de Médecine Rennes France 2Service de Gynécologie Obstétrique CHU de Rennes Rennes France 3Unité de Génétique Médicale Hôpital Sud Rennes France 4Department of Pediatrics Baskent University Adana Hospital Adana Turkey and 5Service de Néphrologie Hôpital Necker-Enfants-Malades Paris France Email Agnès Burel - Thomas Mouchel - Sylvie Odent - FilizTiker - filiztiker@ Bertrand Knebelmann - knebelmann@ Isabelle Pellerin - Daniel Guerrier - Corresponding author Published 23 March 2006 Received 01 July 2005 Journal of Negative Results in BioMedicine2006 5 4 doi 186 1477-5751-5-4 Accepted 23March 2006 This article is available from http content 5 1 4 2006Burel et al licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract The Mayer-Rokitansky-Kuster-Hauser MRKH syndrome refers to the congenital absence or severe hypoplasia of the female genital tract often described as uterovaginal aplasia which is the prime feature of the syndrome. It is the second cause of primary amenorrhea after gonadal dysgenesis and occurs in 1 in 4500 women. Aetiology of this syndrome remains poorly understood. Frequent association of other malformations with .