The human genome contains approximately 20,000 protein-coding genes, of which more than 15,000 (3/4) are expressed, among others, in the central nervous system. Variants that damage the function of these genes (called pathogenic variants) can lead to various forms of neurodevelopmental disorders (ND...

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Main Authors: Markéta Vlčková, Hana Řezáčová, Pavel TesnerPh. D., Lenka Pospíšilová, Markéta Havlovicová
Format: Article
Language:ces
Published: Association of Speech-Language Pathologists of Czech Republic 2025-06-01
Series:Listy klinicke logopedie
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Online Access:https://casopis.aklcr.cz/en/artkey/lkl-202501-0008_genes-and-speech.php
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Summary:The human genome contains approximately 20,000 protein-coding genes, of which more than 15,000 (3/4) are expressed, among others, in the central nervous system. Variants that damage the function of these genes (called pathogenic variants) can lead to various forms of neurodevelopmental disorders (NDD), including speech and language disorders. These can occur alone or in various combinations. In this review article, we provide information on the possibilities, limits and importance of genetic testing in patients with NDD.
ISSN:2570-6179