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Silver–Russell Syndrome Due to Paternal H19/IGF2 Hypomethylation in a Twin Girl Born After In Vitro Fertilization

Silver–Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation, facial dysmorphism and body asymmetry. One of the main molecular mechanisms leading to the syndrome involves methylation abnormalities of chromo...

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Detalles Bibliográficos
Autores principales: Cocchi, Guido, Marsico, Concetta, Cosentino, Anita, Spadoni, Chiara, Rocca, Alessandro, De Crescenzo, Agostina, Riccio, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065345/
https://www.ncbi.nlm.nih.gov/pubmed/24038823
http://dx.doi.org/10.1002/ajmg.a.36145