Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance

Several hypotheses have been proposed to explain the phenotypic variability between parent and offspring carrying the same genomic imbalance, including unmasking of a recessive variant by a chromosomal deletion. Here, 19 patients with neurodevelopmental disorders harboring a rare deletion inherited...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Egloff, Matthieu, Nguyen, Lam-Son, Siquier-Pernet, Karine, Cormier-Daire, Valérie, Baujat, Geneviève, Attié-Bitach, Tania, Bole-Feysot, Christine, Nitschke, Patrick, Vekemans, Michel, Colleaux, Laurence, Malan, Valérie
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2018
Assuntos:
Brief Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5974246/
https://ncbi.nlm.nih.gov/pubmed/29483668
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0124-4
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