Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing

Familial apparently balanced translocations (ABTs) are usually not associated with a phenotype; however, rarely, ABTs segregate with discordant phenotypes in family members carrying identical rearrangements. The current study was a follow-up investigation of four familial ABTs, where whole exome seq...

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Detalles Bibliográficos
Autores principales: Aristidou, Constantia, Theodosiou, Athina, Alexandrou, Angelos, Papaevripidou, Ioannis, Evangelidou, Paola, Kosmaidou-Aravidou, Zoe, Behjati, Farkhondeh, Christophidou-Anastasiadou, Violetta, Tanteles, George A., Sismani, Carolina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859009/
https://www.ncbi.nlm.nih.gov/pubmed/36672823
http://dx.doi.org/10.3390/genes14010082

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859009/
https://www.ncbi.nlm.nih.gov/pubmed/36672823
http://dx.doi.org/10.3390/genes14010082

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