Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Gunning, Adam C. ; Strucinska, Klaudia ; Muñoz Oreja, Mikel ; Parrish, Andrew ; Caswell, Richard ; Stals, Karen L. ; Durigon, Romina ; Durlacher-Betzer, Karina ; Cunningham, Mitchell H. ; Grochowski, Christopher M. ; Baptista, Julia ; Tysoe, Carolyn ; Baple, Emma ; Lahiri, Nayana ; Homfray, Tessa ; Scurr, Ingrid ; Armstrong, Catherine ; Dean, John ; Fernandez Pelayo, Uxoa ; Jones, Aleck W.E. ; Taylor, Robert W. ; Misra, Vinod K. ; Yoon, Wan Hee ; Wright, Caroline F. ; Lupski, James R. ; Spinazzola, Antonella ; Harel, Tamar ; Holt, Ian J. ; Ellard, Sian

American journal of human genetics, 2020-02, Vol.106 (2), p.272-279 [Periódico revisado por pares]

United States: Elsevier Inc

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