Co-occurring pathogenic variants in 6q27 associated with dementia spectrum disorders in a Peruvian family.

Autor: Alvarez KLF; Laboratory of Genomics and Neurovascular Diseases, Universidad Católica de Santa María, Arequipa, Peru., Aguilar-Pineda JA; Laboratory of Genomics and Neurovascular Diseases, Universidad Católica de Santa María, Arequipa, Peru., Ortiz-Manrique MM; Laboratory of Genomics and Neurovascular Diseases, Universidad Católica de Santa María, Arequipa, Peru., Paredes-Calderon MF; Division of Neurology, Psychiatry and Radiology of the National Hospital ESSALUD-HNCASE, Arequipa, Peru., Cardenas-Quispe BC; Division of Neurology, Psychiatry and Radiology of the National Hospital ESSALUD-HNCASE, Arequipa, Peru., Vera-Lopez KJ; Laboratory of Genomics and Neurovascular Diseases, Universidad Católica de Santa María, Arequipa, Peru., Goyzueta-Mamani LD; Laboratory of Genomics and Neurovascular Diseases, Universidad Católica de Santa María, Arequipa, Peru., Chavez-Fumagalli MA; Laboratory of Genomics and Neurovascular Diseases, Universidad Católica de Santa María, Arequipa, Peru., Davila-Del-Carpio G; Vicerrectorado de Investigación, Universidad Católica de Santa María, Arequipa, Peru., Peralta-Mestas A; Division of Neurology, Psychiatry and Radiology of the National Hospital ESSALUD-HNCASE, Arequipa, Peru., Musolino PL; Department of Neurology, Massachusetts General Hospital, Boston, MA, United States.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, United States., Lino Cardenas CL; Cardiovascular Research Center, Cardiology Division, Massachusetts General Hospital, Boston, MA, United States.

Publikováno v: Frontiers in molecular neuroscience [Front Mol Neurosci] 2023 Feb 16; Vol. 16, pp. 1104585. Date of Electronic Publication: 2023 Feb 16 (Print Publication: 2023).