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The Application of Clinical Genetics Volume 14, 2021 - Issue

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Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype

César Payán-Gómez1 Deparment of Biology, Faculty of Natural Sciences, Universidad del Rosario, Bogotá, Colombia

https://orcid.org/0000-0002-0633-1332

Julian Ramirez-Cheyne2 Health Faculty, Universidad del Valle, Cali, Colombia;3 Hospital Universitario del Valle, Cali, Colombia

Wilmar Saldarriaga2 Health Faculty, Universidad del Valle, Cali, Colombia;3 Hospital Universitario del Valle, Cali, ColombiaCorrespondence[email protected]

Pages 305-312 | Published online: 05 Jul 2021

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Patricia Cogram, Luis C. Fernández-Beltrán, María José Casarejos, Sonia Sánchez-Yepes, Eulalia Rodríguez-Martín, Alfonso García-Rubia, María José Sánchez-Barrena, Carmen Gil, Ana Martínez & Alicia Mansilla. (2022) The inhibition of NCS-1 binding to Ric8a rescues fragile X syndrome mice model phenotypes. Frontiers in Neuroscience 16.
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Rebecca Kingdom & Caroline F. Wright. (2022) Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts. Frontiers in Genetics 13.
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