Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki–Lupski syndrome diagnosis

The identification of structural variants of uncertain clinical significance is increasing; however, studies delineating the functional consequence of these variants in the pathogenicity of phenotypic features are lacking. Understanding the consequence of structural variants such as copy number alte...

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Detalles Bibliográficos
Autores principales: Alaimo, Joseph T., Mullegama, Sureni V., Thomas, Mary Ann, Elsea, Sarah H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4594966/
https://www.ncbi.nlm.nih.gov/pubmed/26442755
http://dx.doi.org/10.1186/s13039-015-0179-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4594966/
https://www.ncbi.nlm.nih.gov/pubmed/26442755
http://dx.doi.org/10.1186/s13039-015-0179-7

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