hrp0094s12.1 | Epigenetics and Genetics in Endocrine Disorders | ESPE2021
Temple I Karen
Human imprinting disorders are congenital disorders of growth, development and metabolism, associated with disturbance of gene dosage at imprinted loci across the genome. Causes of disease include point mutations, structural variants, uniparental disomy and epimutations with a parent of origin specific effect. Further complexity underlies the causes of the epigenomic errors that may be the result of genetic and environmental factors at different times during the de...