Genetic Aspects of Speech Disorders in Children
摘要
Speech disorders remain one of the main challenges in pediatric neurology. The development of genetic diagnostics is producing ever more data on the role of chromosomal and gene disorders in the genesis of speech disorders. This report provides current data on the genetic basis of various types of speech disorders. In addition, a clinical example of a patient with a genetically determined developmental disorder due to a mutation in the KMT5B gene and confirmed using the Sanger method is examined in detail.