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TITLE: CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature
AUTHORS: Rouxel, Flavien; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Dias, Patricia; Barat Houari, Mouna; Bednarek, Nathalie; Boute, Odile; Chatron, Nicolas; Cherik, Florian; Delahaye Duriez, Andree; Doco Fenzy, Martine; Faivre, Laurence; Gauthier, Lucas W.; Heron, Delphine; Hildebrand, Michael S.; Lesca, Gaetan; Lespinasse, James; Mazel, Benoit; Menke, Leonie A.; Morgan, Angela T.; Pinson, Lucile; Quelin, Chloe; Rossi, Massimiliano; Ruiz Pallares, Nathalie; Tran Mau Them, Frederic; Van Kessel, Imke N.; Vincent, Marie; Weber, Mathys; Willems, Marjolaine; Leguyader, Gwenael; Sadikovic, Bekim; Genevieve, David; ...More
PUBLISHED: 2022, SOURCE: GENETICS IN MEDICINE, VOLUME: 24, ISSUE: 5
INDEXED IN: Scopus WOS
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TITLE: Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1  Full Text
AUTHORS: Juliette Piard; James Lespinasse; Marketa Vlckova; Martin A Mensah; Sorin Iurian; Martina Simandlova; Marcela Malikova; Oliver Bartsch; Massimiliano Rossi; Marion Lenoir; Frederique Nugues; Stefan Mundlos; Uwe Kornak; Philip Stanier; Sergio B Sousa; Lionel Van Maldergem;
PUBLISHED: 2018, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 176, ISSUE: 3
INDEXED IN: WOS