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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

Ophthalmologic, Hearing, Craniofacial, Dermatologic, Connective Tissue, and Skeletal Disorders

Gebonden Engels 2024 9780128125311
Verwachte levertijd ongeveer 9 werkdagen

Samenvatting

**Selected for 2025 Doody’s Core Titles® in Clinical Genetics**

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the seventh edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome sequencing, public health genetics, and genetic counseling. Volumes 3–11 cover diagnosis, management, and treatment of both rare and common disorders in all organ systems. Students, medical providers, and researchers all benefit from the latest information about the role of the genome in health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals across the full spectrum of applications to medicine.

In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to endocrine, skin, connective tissue and skeletal disorders, with emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods that make use of current genomic technologies and translational studies.

With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics, seventh edition, bridges the gap between high-level molecular genetics and genomics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.

Specificaties

ISBN13:9780128125311
Taal:Engels
Bindwijze:Gebonden

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Inhoudsopgave

PART I Connective Tissue Disorders<br>1. Marfan Syndrome<br>Reed E. Pyeritz<br>2. Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders<br>Qiaoli Li and Jouni Uitto<br>3. Disorders of Bone Density, Volume, and Mineralization<br>Reed E Pyeritz<br>4. Chondrodysplasias<br>Clair A. Francomano<br>PART II Dermatologic Disorders<br>5. Abnormalities of Pigmentation<br>Reed E. Pyeritz<br>6. Ichthyosiform Dermatoses<br>Howard P. Baden, John J. DiGiovanna, Keith A. Choate, and Caroline M. Echeandia-Francis<br>7. Epidermolysis Bullosa<br>Cristina Has, Leena Bruckner-Tuderman, and Jouni Uitto<br>8. Ectodermal Dysplasias<br>Dorothy Katherine Grange<br>9. The Genetics of Skin Cancer<br>Reed E. Pyeritz<br>10. Genetics of Psoriasis<br>Johann E. Gudjonsson and James T. Elder<br>11. Cutaneous Hamartoses-Renal Cancer Syndromes: Birt-Hogg-Dub_e (BHD) Syndrome and Hereditary Leiomyomatosis and Renal Cancer (HLRCC)<br>Katherine L. Nathanson<br>12. Inherited Disorders of the Hair<br>Eunice Y. Lee, Mazen Kurban, and Angela M. Christiano<br>PART III Endocrinologic Disorders<br>13. Genetic Disorders of the Adrenal Gland<br>Reed E. Pyeritz<br>14. Genetic Disorders of the Pituitary Gland<br>Reed E. Pyeritz<br>15. Thyroid Disorders<br>Michel Polak and Gabor Szinnai<br>16. Diabetes Mellitus<br>Reed E. Pyeritz<br>PART IV Skeletal Disorders<br>17. Common Skeletal Deformities<br>Reed E. Pyeritz<br>18. Hereditary Noninflammatory Arthropathies<br>Mariko L. Ishimori<br>19. Abnormalities of Bone Structure<br>Reed E. Pyeritz<br>20. Osteogenesis Imperfecta and Other Disorders of Bone Matrix<br>Reed E. Pyeritz

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        Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics