Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis

• Autors principals: Mouna Ouhenach (Autor), Abdelali Zrhidri (Autor), Imane Cherkaoui Jaouad (Autor), Wiam Smaili (Autor), Abdelaziz Sefiani (Autor)
• Format: Llibre
• Publicat: BMC, 2020-12-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Abstract Background In Morocco, consanguinity rate is very high; which lead to an increase in the birth prevalence of infants with autosomal recessive disorders. Previously, it was difficult to diagnose rare autosomal recessive diseases. Next Generation Sequencing (NGS) techniques have considerably...