Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing

PURPOSE: Mendelian phenotypes in humans vary from benign variants to lethal disorders. Embryonic lethal phenotypes that are similar to what has been known for a long time in mice have remained largely unknown because of the difficulty in arriving at a molecular diagnosis. The purpose of this study i...

Descripción completa

Detalles Bibliográficos
Autores principales: Shamseldin, Hanan E., Swaid, Abdulrahman, Alkuraya, Fowzan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2013
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908556/
https://www.ncbi.nlm.nih.gov/pubmed/23037934
http://dx.doi.org/10.1038/gim.2012.130

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908556/
https://www.ncbi.nlm.nih.gov/pubmed/23037934
http://dx.doi.org/10.1038/gim.2012.130

Ejemplares similares