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...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-12-01
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Series: | BMC Medical Genetics |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12881-020-01167-y |