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

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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Bibliographic Details
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
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Genetics
Subjects:
Silver-Russell syndrome
unexpected molecular results
body asymmetry
IGF2
hand dystonia
VPS16
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1198821/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1198821/full

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