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

• मुख्य लेखकों: Mahmoud Y. Issa (लेखक), Zinayida Chechlacz (लेखक), Valentina Stanley (लेखक), Renee D. George (लेखक), Jennifer McEvoy-Venneri (लेखक), Denice Belandres (लेखक), Hasnaa M. Elbendary (लेखक), Khaled R. Gaber (लेखक), Ahmed Nabil (लेखक), Mohamed S. Abdel-Hamid (लेखक), Maha S. Zaki (लेखक), Joseph G. Gleeson (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2020-05-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...