A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

ARID1B is one of the most frequently mutated genes in intellectual disability (~1%). Most variants are readily classified, since they are de novo and are predicted to lead to loss of function, and therefore classified as pathogenic according to the American College of Medical Genetics and Genomics (...

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Detalles Bibliográficos
Autores principales: van der Sluijs, Pleuntje J., Alders, Mariëlle, Dingemans, Alexander J. M., Parbhoo, Kareesma, van Bon, Bregje W., Dempsey, Jennifer C., Doherty, Dan, den Dunnen, Johan T., Gerkes, Erica H., Milller, Ilana M., Moortgat, Stephanie, Regier, Debra S., Ruivenkamp, Claudia A. L., Schmalz, Betsy, Smol, Thomas, Stuurman, Kyra E., Vincent-Delorme, Catherine, de Vries, Bert B. A., Sadikovic, Bekim, Hickey, Scott E., Rosenfeld, Jill A., Maystadt, Isabelle, Santen, Gijs W. E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8393241/
https://www.ncbi.nlm.nih.gov/pubmed/34440449
http://dx.doi.org/10.3390/genes12081275

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8393241/
https://www.ncbi.nlm.nih.gov/pubmed/34440449
http://dx.doi.org/10.3390/genes12081275

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