Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype

Uniparental disomy (UPD), which is the abnormal situation in which both copies of a chromosomal pair have been inherited from one parent, may cause clinical abnormalities by affecting genomic imprinting or causing autosomal recessive variation. Whole Exome Sequencing (WES) and chromosomal microarray...

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Publicado en:Exp Ther Med
Autores principales: LI, NIU, DING, YU, YU, TINGTING, LI, JUAN, SHEN, YONGNIAN, WANG, XIUMIN, FU, QIHUA, SHEN, YIPING, HUANG, XIAODONG, WANG, JIAN
Formato: Artigo
Lenguaje:Inglês
Publicado: D.A. Spandidos 2016
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4887894/
https://ncbi.nlm.nih.gov/pubmed/27284308
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2016.3241
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