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Examples of monogenic diseases
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Examples of monogenic diseases

The term monogenic diseases refers to diseases caused by mutations in a single gene.

Cystic fibrosis would be an example of a monogenic disease since this pathology is caused by a mutation in the CFTR gene. Other examples would be haemophilia or Fragile X syndrome. All these diseases can be prevented in offspring by performing a preimplantation genetic diagnosis.

By (embryologist), (senior embryologist), (gynecologist), (expert in clinical diagnostics), (embryologist) and (invitra staff).
Last Update: 06/19/2023