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Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles

To identify novel genes responsible for recurrent hydatidiform moles (HMs), we performed exome sequencing on 75 unrelated patients who were negative for mutations in the known genes. We identified biallelic deleterious variants in 6 genes, FOXL2, MAJIN, KASH5, SYCP2, MEIOB, and HFM1, in patients wit...

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Main Authors: Maryam Rezaei, Manqi Liang, Zeynep Yalcin, Jacinta H. Martin, Parinaz Kazemi, Eric Bareke, Zhao-Jia Ge, Majid Fardaei, Claudio Benadiva, Reda Hemida, Adnan Hassan, Geoffrey J. Maher, Ebtesam Abdalla, William Buckett, Pierre-Adrien Bolze, Iqbaljit Sandhu, Onur Duman, Suraksha Agrawal, JianHua Qian, Jalal Vallian Broojeni, Lavi Bhati, Pierre Miron, Fabienne Allias, Amal Selim, Rosemary A. Fisher, Michael J. Seckl, Philippe Sauthier, Isabelle Touitou, Seang Lin Tan, Jacek Majewski, Teruko Taketo, Rima Slim
Format: Artigo
Language:Inglês
Published: American Society for Clinical Investigation 2024-11-01
Series:The Journal of Clinical Investigation
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Online Access:https://doi.org/10.1172/JCI170669
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