Genetics and genomic medicine have revolutionized the field of healthcare, enabling personalized and targeted approaches to diagnosis, treatment, and prevention of diseases. This case report highlights the role of genetics and genomic medicine in the diagnosis and management of a rare genetic disorder. The patient presented with a complex clinical phenotype, and through the utilization of various genetic testing modalities and interpretation of genomic data, a definitive diagnosis was achieved. This case exemplifies the transformative power of genetics and genomic medicine and emphasizes the importance of integrating these advancements into routine clinical practice.
Published Date: 2023-06-23; Received Date: 2023-05-28
