Congenital imprinting disorders: - 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 specific clinical features, and, as each appeared to be associated… (More)
DOI: 10.1186/s13148-015-0050-z


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