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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Eur J Hum Genet
Huvudupphovsmän: Mor-Shaked, Hagar, Rips, Jonathan, Gershon Naamat, Shiri, Reich, Avichai, Elpeleg, Orly, Meiner, Vardiella, Harel, Tamar
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer International Publishing 2020
Ämnen:
Article
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk