Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients

BACKGROUND: Uniparental disomy (UPD) is the inheritance of two homologous chromosomes from the same parent. UPD may result in clinical phenotypes when occurring on chromosomes with specific imprinting pattern, when leading to homozygosity of a deleterious recessive allele inherited from one carrier...

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Detalles Bibliográficos
Autores principales: Wang, Lei, Liu, Pengfei, Bi, Weimin, Sim, Teresa, Wang, Xia, Walkiewicz, Magdalene, Leduc, Magalie Sophie, Meng, Linyan, Xia, Fan, Eng, Christine M., Yang, Yaping, Yuan, Bo, Dai, Hongzheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606208/
https://www.ncbi.nlm.nih.gov/pubmed/34587367
http://dx.doi.org/10.1002/mgg3.1792

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606208/
https://www.ncbi.nlm.nih.gov/pubmed/34587367
http://dx.doi.org/10.1002/mgg3.1792

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