Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To date, mutations in five genes have been linked to PFBC. However, more than 50% o...

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Detalles Bibliográficos
Autores principales: Schottlaender, Lucia V., Abeti, Rosella, Jaunmuktane, Zane, Macmillan, Carol, Chelban, Viorica, O’Callaghan, Benjamin, McKinley, John, Maroofian, Reza, Efthymiou, Stephanie, Athanasiou-Fragkouli, Alkyoni, Forbes, Raeburn, Soutar, Marc P.M., Livingston, John H., Kalmar, Bernardett, Swayne, Orlando, Hotton, Gary, Pittman, Alan, Mendes de Oliveira, João Ricardo, de Grandis, Maria, Richard-Loendt, Angela, Launchbury, Francesca, Althonayan, Juri, McDonnell, Gavin, Carr, Aisling, Khan, Suliman, Beetz, Christian, Bisgin, Atil, Tug Bozdogan, Sevcan, Begtrup, Amber, Torti, Erin, Greensmith, Linda, Giunti, Paola, Morrison, Patrick J., Brandner, Sebastian, Aurrand-Lions, Michel, Houlden, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058839/
https://www.ncbi.nlm.nih.gov/pubmed/32142645
http://dx.doi.org/10.1016/j.ajhg.2020.02.007

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