An Update on Molecular Diagnostic Testing of Human Imprinting Disorders

Abstract

Imprinted genes are expressed in a parent of origin manner. Dysregulation of imprinted genes expression causes various disorders associated with abnormalities of growth, neurodevelopment, and metabolism. Molecular mechanisms leading to imprinting disorders and strategies for their diagnosis are discussed in this review article.

Keywords

genomic imprinting - epigenetics - DNA methylation

• References

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