Case report: a typical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum

The amount of Insulin Growth Factor 2 (IGF2) controls the rate of embryonal and postnatal growth. The IGF2 and adjacent H19 are the imprinted genes of the telomeric cluster in the 11p15 chromosomal region regulated by differentially methylated regions (DMRs) or imprinting centers (ICs): H19/IGF2:IG-...

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Detalles Bibliográficos
Autores principales: Vimercati, Alessandro, Tannorella, Pierpaola, Orlandini, Eleonora, Calzari, Luciano, Moro, Mirella, Guzzetti, Sara, Selicorni, Angelo, Crippa, Milena, Larizza, Lidia, Bonati, Maria Teresa, Russo, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387531/
https://www.ncbi.nlm.nih.gov/pubmed/37529781
http://dx.doi.org/10.3389/fgene.2023.1198821

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387531/
https://www.ncbi.nlm.nih.gov/pubmed/37529781
http://dx.doi.org/10.3389/fgene.2023.1198821

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