Somatic Mutations in Overgrowth Syndromes
作者： Jonathan J. Rios , Marybeth Ezaki
DOI: 10.1007/978-1-4939-2169-0_9
关键词: Genetics 、 Cell signaling pathways 、 Etiology 、 Genetic Phenomena 、 Aberrant cell 、 Somatic cell 、 Biology
摘要: Human overgrowth syndromes are varied in their presentation and severity among patients. The etiology of these has long been associated with genetic phenomena increased paternal or maternal age. Next generation genomic methods have expedited discovery non-heritable mutations that cause syndromes. Many somatic, tissue-specific activate cancer-associated cell signaling pathways, leading to aberrant growth. Interestingly, although the different disorders widely presentations—heretofore considered distinct syndromes—the etiologies converge on similar mechanisms, which raises questions as proper classification nomenclature diagnoses. This chapter reviews multiple provides an in-depth explanation mechanisms causing presentations.
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