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Textbook in PDF format

Preface
About the Editors and Contributors
About the Editors
Contributors
Introduction to Rare Genetic Disorders
Techniques for the Diagnosis of Rare Genetic Disorders
Prenatal Screening and Counseling for Rare Genetic Disorders
Disease Models for Rare Genetic Disorders
Research and Clinical Approaches to Undiagnosed Rare Genetic Disorders
Drug Discovery and Development for Rare Genetic Disorders
Rare Genetic Disorders: Unraveling the Pathophysiology, Gene Mutations, and Therapeutic Advances in Fabry Disease and Marfan Syndrome
Current Insights into the Potential of Gene Therapy to Treat Rare Mitochondrial Diseases
Challenges and Future Opportunities in Rare Genetic Disorders: A Comprehensive Review