What Conditions Are Commonly Linked to Genetic Variations in Pediatrics?
Several pediatric conditions are linked to genetic variations. These include:
- Cystic Fibrosis: Caused by mutations in the CFTR gene. - Sickle Cell Disease: Resulting from mutations in the HBB gene. - Down Syndrome: Typically caused by an extra copy of chromosome 21. - Duchenne Muscular Dystrophy: Due to mutations in the DMD gene. - Autism Spectrum Disorders: Linked to various genetic changes, including de novo mutations.
