Case report: atypical 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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Main Authors: Alessandro Vimercati, Pierpaola Tannorella, Eleonora Orlandini, Luciano Calzari, Mirella Moro, Sara Guzzetti, Angelo Selicorni, Milena Crippa, Lidia Larizza, Maria Teresa Bonati, Silvia Russo
格式: Article
語言:English
出版: Frontiers Media S.A. 2023-07-01
叢編:Frontiers in Genetics
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在線閱讀:https://www.frontiersin.org/articles/10.3389/fgene.2023.1198821/full