Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families

The causes for thousands of individually rare recessive diseases have been discovered since the adoption of next generation sequencing (NGS). Following the molecular diagnosis in older children in a family, pa...

Source: BMC Medical Genomics - May 13, 2020 Category: Genetics & Stem Cells Authors: Mahmoud Y. Issa, Zinayida Chechlacz, Valentina Stanley, Renee D. George, Jennifer McEvoy-Venneri, Denice Belandres, Hasnaa M. Elbendary, Khaled R. Gaber, Ahmed Nabil, Mohamed S. Abdel-Hamid, Maha S. Zaki and Joseph G. Gleeson Tags: Research article Source Type: research