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

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...

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Detalles Bibliográficos
Autores principales: Ouhenach, Mouna, Zrhidri, Abdelali, Jaouad, Imane Cherkaoui, Smaili, Wiam, Sefiani, Abdelaziz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733293/
https://www.ncbi.nlm.nih.gov/pubmed/33308164
http://dx.doi.org/10.1186/s12881-020-01167-y