Article
Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.
American journal of medical genetics. Part A - 1 Sept 2013
Poole Rebecca L, Docherty Louise E, Al Sayegh Abeer, Caliebe Almuth, Turner Claire, Baple Emma, Wakeling Emma, Harrison Lucy, Lehmann Anna, Temple I Karen, Mackay Deborah J G
Abstract excerpt
Imprinting disorders are associated with mutations and epimutations affecting imprinted genes, that is those whose expression is restricted by parent of origin. Their diagnosis is challenging for two reasons: firstly, their clinical features, particularly prenatal and postnatal growth disturbance, are heterogeneous and partially overlapping; secondly, their underlying molecular defects include mutation,...
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