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

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...

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Bibliographic Details
Main Authors: Mouna Ouhenach, Abdelali Zrhidri, Imane Cherkaoui Jaouad, Wiam Smaili, Abdelaziz Sefiani
Format: Article
Language:English
Published: BMC 2020-12-01
Series:BMC Medical Genetics
Subjects:
Online Access:https://doi.org/10.1186/s12881-020-01167-y