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Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum

Silver–Russell syndrome is an imprinting disorder characterised by pre- and post-natal growth retardation and several heterogeneous molecular defects affecting different human genomic loci. In the majority of cases, the molecular defect is the loss of methylation (LOM) of the H19/IGF2 differentially...

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Detalles Bibliográficos
Autores principales: Passaretti, Francesco, Pignata, Laura, Vitiello, Giuseppina, Alesi, Viola, D’Elia, Gemma, Cecere, Francesco, Acquaviva, Fabio, De Brasi, Daniele, Novelli, Antonio, Riccio, Andrea, Iolascon, Achille, Cerrato, Flavia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9602374/
https://www.ncbi.nlm.nih.gov/pubmed/36292759
http://dx.doi.org/10.3390/genes13101875