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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
Cardiovascular, Respiratory, and Gastrointestinal Disorders

Addresses medical genetics and genomics as applied to cardiovascular, respiratory and gastrointestinal disorders, emphasizing the genetic determinants of these disorders

Reed E. Pyeritz (Edited by), Bruce R. Korf (Edited by), Wayne W. Grody (Edited by)

9780128125328

Hardback, published 3 September 2019

594 pages
23.4 x 19 x 3.3 cm, 1.4 kg

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine. Updated sections in this release cover the genetics of cardiovascular, respiratory and gastrointestinal disorders, with an emphasis on genetic determinants and new pathways for diagnosis, prevention and disease management.

In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions.

Section 1 1. Congenital Heart Defects 2. Inherited Cardiomyopathies 3. Heritable and Idiopathic Forms of Pulmonary Arterial Hypertension 4. Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Syndrome) 5. Hereditary Disorders of the Lymphatic System and Varicose Veins 6. The Genetics of Cardiac Electrophysiology in Humans 7. Arteriopathy 8. Genetics of Blood Pressure Regulation 9. Common Genetic Determinants of Coagulation and Fibrinolysis 10. Genetics of Atherosclerotic Cardiovascular Disease 11. Disorders of the Venous System 12. Capillary Malformation/Arteriovenous Malformation

Section 2 13. Cystic Fibrosis 14. Genetic Underpinnings of Asthma and Related Traits 15. Hereditary Pulmonary Emphysema 16. LAM 17. Interstitial and Restrictive Pulmonary Disorders

Section 3 18. Congenital Anomalies of the Kidney and Urinary Tract 19. Cystic Diseases of the Kidney 20. Nephrotic Disorders 21. Renal Tubular Disorders

Section 4 22. Gastrointestinal Tract and Hepatobiliary Duct System 23. Inflammatory Bowel Disease 24. Bile Pigment Metabolism and Its Disorders

Subject Areas: DNA & Genome [PSAK1]

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