American journal of medical genetics. Part A
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.
Alessandro De Falco, Marie Vincent, Gaëlle Vieville, Marjolaine Gauthier, Klaus Dieterich, Charles Coutton, Sara Loddo, Antonio Novelli, Bruno Dallapiccola, Maria Cristina Digilio, Silvana Briuglia, Laura Bernardini, Paolo Fontana, Agnieszka Madej-Pilarczyk, Marlena Młynek
Published: 202510.1002/ajmg.a.64303
Abstract
Copy number variants (CNV) are a major cause of neurodevelopmental disorders. Novel CNV syndromes may still be unrecognized. We report a 9q34.11 microduplication syndrome characterized by neurodevelopmental impairment and recurrent facial anomalies.…
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