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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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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Mor-Shaked, Hagar, Rips, Jonathan, Gershon Naamat, Shiri, Reich, Avichai, Elpeleg, Orly, Meiner, Vardiella, Harel, Tamar
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2020
Assuntos:
Acesso em linha: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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