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Expanding the Genetic and Clinical Spectrum of Tatton-Brown-Rahman Syndrome in a Series of 24 French Patients

Hortense Thomas,Tom Alix,Emeline Renard,Mathilde Renaud, Justine Wourms,Stephane Zuily,Bruno Leheup,David Genevieve,Natacha Dreumont,Emmanuelle Schmitt,Myriam Bronner,Marc Muller,Marion Divoux,Marion Wandzel,Jean-Marie Ravel, Mylene Dexheimer,Aurelie Becker,Virginie Roth,Marjolaine Willems,Christine Coubes,Gaelle Vieville,Francoise Devillard,Elise Schaefer,Sarah Baer,Amelie Piton,Benedicte Gerard,Marie Vincent,Mathilde Nizon,Benjamin Cogne,Lyse Ruaud,Nathalie Couque,Audrey Putoux,Patrick Edery,Gaetan Lesca,Nicolas Chatron,Marianne Till,Laurence Faivre,Frederic Tran-Mau-Them,Jean-Luc Alessandri,Marine Lebrun,Chloe Quelin,Sylvie Odent,Christele Dubourg,Veronique David,Marie Faoucher,Cyril Mignot,Boris Keren, Elise Pisan,Alexandra Afenjar,Sophie Julia,Eric Bieth,Guillaume Banneau,Alice Goldenberg,Thomas Husson,Dominique Campion,Francois Lecoquierre,Gael Nicolas,Camille Charbonnier,Anne De Saint Martin,Sophie Naudion, Manon Degoutin,Sophie Rondeau,Caroline Michot,Valerie Cormier-Daire,Abderrahim Oussalah,Carine Pourie,Laetitia Lambert,Celine Bonnet

Journal of Medical Genetics（2024）

引用 0|浏览5
关键词
genetic diseases, inborn,exome sequencing,genetics, medical,loss of function mutation,mental disorders
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