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Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child

Consanguinity, commonplace in many regions around the globe, is associated with an increased risk of autosomal recessive (AR) genetic disorders. Consequently, consanguineous couples undergoing preimplantation genetic diagnosis (PGD) for one Mendelian disorder may be at increased risk for a child wit...

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Détails bibliographiques
Publié dans:Eur J Hum Genet
Auteurs principaux: Mor-Shaked, Hagar, Rips, Jonathan, Gershon Naamat, Shiri, Reich, Avichai, Elpeleg, Orly, Meiner, Vardiella, Harel, Tamar
Format: Artigo
Langue:Inglês
Publié: Springer International Publishing 2020
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7940654/
https://ncbi.nlm.nih.gov/pubmed/33223529
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00756-y
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