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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Detalles Bibliográficos
Autores principales: Eggermann, Thomas, Netchine, Irène, Temple, I Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah, Grønskov, Karin, Riccio, Andrea, Linglart, Agnès, Maher, Eamonn R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362648/
https://www.ncbi.nlm.nih.gov/pubmed/25784961
http://dx.doi.org/10.1186/s13148-015-0050-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362648/
https://www.ncbi.nlm.nih.gov/pubmed/25784961
http://dx.doi.org/10.1186/s13148-015-0050-z

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