Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised by specifi...

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Bibliografiske detaljer
Udgivet i:Clin Epigenetics
Main Authors: Eggermann, Thomas, Netchine, Irène, Temple, I Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah, Grønskov, Karin, Riccio, Andrea, Linglart, Agnès, Maher, Eamonn R
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2015
Fag:
Review
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4362648/
https://ncbi.nlm.nih.gov/pubmed/25784961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13148-015-0050-z
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