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

• Main Authors: Mahmoud Y. Issa (Author), Zinayida Chechlacz (Author), Valentina Stanley (Author), Renee D. George (Author), Jennifer McEvoy-Venneri (Author), Denice Belandres (Author), Hasnaa M. Elbendary (Author), Khaled R. Gaber (Author), Ahmed Nabil (Author), Mohamed S. Abdel-Hamid (Author), Maha S. Zaki (Author), Joseph G. Gleeson (Author)
• Format: Book
• Published: BMC, 2020-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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, parents could use this information to opt for fetal genotyping in subsequ...