Congenital imprinting disorders: Application of multilocus and high throughput methods to decipher new pathomechanisms and improve their management.

Abstract excerpt

Imprinting disorders (IDs) are a group of congenital diseases affecting growth, development and metabolism. They are caused by changes in the allele-specific regulation ("epigenetic mutation") or in the genomic sequence ("genetic mutation") of imprinted genes. Currently molecular tests in ID patients are generally restricted to single loci classically associated with the disease, but this approach limits...

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