Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

PURPOSE: The pace of Mendelian gene discovery is slowed by the “n-of-1 problem” – the difficulty of establishing causality of a putatively pathogenic variant in a single person or family. Identification of an unrelated person with an overlapping phenotype and suspected pathogenic variant in the same...

Descripción completa

Detalles Bibliográficos
Autores principales: Chong, Jessica X., Yu, Joon-Ho, Lorentzen, Peter, Park, Karen M., Jamal, Seema M., Tabor, Holly K., Rauch, Anita, Saenz, Margarita Sifuentes, Boltshauser, Eugen, Patterson, Karynne E., Nickerson, Deborah A., Bamshad, Michael J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902791/
https://www.ncbi.nlm.nih.gov/pubmed/26656649
http://dx.doi.org/10.1038/gim.2015.161

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902791/
https://www.ncbi.nlm.nih.gov/pubmed/26656649
http://dx.doi.org/10.1038/gim.2015.161

Ejemplares similares