genetic variants

What Conditions are Commonly Associated with Genetic Variants in Pediatrics?

Several pediatric conditions are linked to specific genetic variants. Some common examples include:
Down Syndrome - caused by an extra copy of chromosome 21.
Fragile X Syndrome - caused by a mutation in the FMR1 gene.
Sickle Cell Disease - caused by mutations in the HBB gene.
Muscular Dystrophies - caused by mutations in various genes, including DMD.

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