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Although the classic childhood phenotypes of many developmental disorders have been established for some time, only in the past decade have the genetic etiologies of some of these disorders been identified. Investigations of the molecular basis of these conditions have resulted in the identification of new genes, leading to insights into the function of new proteins and biochemical pathways. In addition, genetic mechanisms previously unknown in humans, such as genomic imprinting, uniparental disomy, expansion of trinucleotide repeats, and facilitation of deletions and duplications by low-copy repeats, were recognized as the causes of some of these conditions.
KeywordsWilliams Syndrome Rett Syndrome Angelman Syndrome Full Mutation Uniparental Disomy
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