Orphanet Journal of Rare Diseases

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Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

Laura Bernardini, Stefania Gimelli, Cristina Gervasini, Massimo Carella, Anwar Baban, Giada Frontino, Giancarlo Barbano, Maria T Divizia, Luigi Fedele, Antonio Novelli, Frédérique Béna, Faustina Lalatta, Monica Miozzo and Bruno Dallapiccola*

Orphanet Journal of Rare Diseases 2009, 4:25 doi:10.1186/1750-1172-4-25

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Evaluation of SHOX copy number variations in patients with Müllerian aplasia

Maria Sandbacka, Mervi Halttunen, Varpu Jokimaa, Kristiina Aittomäki, Hannele Laivuori Orphanet Journal of Rare Diseases 2011, 6:53 (2 August 2011)