A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver–Russell syndrome phenotype

The Silver–Russell syndrome (SRS) is a rare disorder characterized by heterogeneous clinical features, including growth retardation, typical facial dysmorphisms, and body asymmetry. Genetic alterations causative of SRS mostly affect imprinted genes located on chromosomes 7 or 11. Hypomethylation of...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: Mio, Catia, Allegri, Lorenzo, Passon, Nadia, Bregant, Elisa, Demori, Eliana, Franzoni, Alessandra, Driul, Daniela, Riccio, Andrea, Damante, Giuseppe, Baldan, Federica
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer International Publishing 2020
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7940628/
https://ncbi.nlm.nih.gov/pubmed/33177595
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00753-1
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