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Article

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

BMC medical genetics - 12 Dec 2020

Ouhenach Mouna, Zrhidri Abdelali, Jaouad Imane Cherkaoui, Smaili Wiam, Sefiani Abdelaziz

Abstract excerpt

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 improved clinical diagnostics. A genetic diagnosis showing biallelic causative mutations is the requirement for targeted...

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Identifiers

PMID: 33308164
DOI: 10.1186/s12881-020-01167-y
PMCID: PMC7733293

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