Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Ophthalmologic, Hearing, Craniofacial, Dermatologic, Connective Tissue, and Skeletal Disorders
Editat de Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grodyen Limba Engleză Hardback – 20 noi 2024
- Thoroughly introduces genetic researchers, students, and healthcare professionals to the genetic and genomic bases of endocrinologic, dermatologic, connective tissue, and skeletal disorders
- Includes color images supporting identification, concept illustration, and method processing
- Features contributions by leading international researchers and specialist medical practitioners
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Specificații
ISBN-13: 9780128125311
ISBN-10: 0128125314
Pagini: 694
Dimensiuni: 191 x 235 mm
Greutate: 0.45 kg
Ediția:7
Editura: ELSEVIER SCIENCE
ISBN-10: 0128125314
Pagini: 694
Dimensiuni: 191 x 235 mm
Greutate: 0.45 kg
Ediția:7
Editura: ELSEVIER SCIENCE
Cuprins
PART I Connective Tissue Disorders
1. Marfan Syndrome
Reed E. Pyeritz
2. Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders
Qiaoli Li and Jouni Uitto
3. Disorders of Bone Density, Volume, and Mineralization
Reed E Pyeritz
4. Chondrodysplasias
Clair A. Francomano
PART II Dermatologic Disorders
5. Abnormalities of Pigmentation
Reed E. Pyeritz
6. Ichthyosiform Dermatoses
Howard P. Baden, John J. DiGiovanna, Keith A. Choate, and Caroline M. Echeandia-Francis
7. Epidermolysis Bullosa
Cristina Has, Leena Bruckner-Tuderman, and Jouni Uitto
8. Ectodermal Dysplasias
Dorothy Katherine Grange
9. The Genetics of Skin Cancer
Reed E. Pyeritz
10. Genetics of Psoriasis
Johann E. Gudjonsson and James T. Elder
11. Cutaneous Hamartoses-Renal Cancer Syndromes: Birt-Hogg-Dub_e (BHD) Syndrome and Hereditary Leiomyomatosis and Renal Cancer (HLRCC)
Katherine L. Nathanson
12. Inherited Disorders of the Hair
Eunice Y. Lee, Mazen Kurban, and Angela M. Christiano
PART III Endocrinologic Disorders
13. Genetic Disorders of the Adrenal Gland
Reed E. Pyeritz
14. Genetic Disorders of the Pituitary Gland
Reed E. Pyeritz
15. Thyroid Disorders
Michel Polak and Gabor Szinnai
16. Diabetes Mellitus
Reed E. Pyeritz
PART IV Skeletal Disorders
17. Common Skeletal Deformities
Reed E. Pyeritz
18. Hereditary Noninflammatory Arthropathies
Mariko L. Ishimori
19. Abnormalities of Bone Structure
Reed E. Pyeritz
20. Osteogenesis Imperfecta and Other Disorders of Bone Matrix
Reed E. Pyeritz
1. Marfan Syndrome
Reed E. Pyeritz
2. Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders
Qiaoli Li and Jouni Uitto
3. Disorders of Bone Density, Volume, and Mineralization
Reed E Pyeritz
4. Chondrodysplasias
Clair A. Francomano
PART II Dermatologic Disorders
5. Abnormalities of Pigmentation
Reed E. Pyeritz
6. Ichthyosiform Dermatoses
Howard P. Baden, John J. DiGiovanna, Keith A. Choate, and Caroline M. Echeandia-Francis
7. Epidermolysis Bullosa
Cristina Has, Leena Bruckner-Tuderman, and Jouni Uitto
8. Ectodermal Dysplasias
Dorothy Katherine Grange
9. The Genetics of Skin Cancer
Reed E. Pyeritz
10. Genetics of Psoriasis
Johann E. Gudjonsson and James T. Elder
11. Cutaneous Hamartoses-Renal Cancer Syndromes: Birt-Hogg-Dub_e (BHD) Syndrome and Hereditary Leiomyomatosis and Renal Cancer (HLRCC)
Katherine L. Nathanson
12. Inherited Disorders of the Hair
Eunice Y. Lee, Mazen Kurban, and Angela M. Christiano
PART III Endocrinologic Disorders
13. Genetic Disorders of the Adrenal Gland
Reed E. Pyeritz
14. Genetic Disorders of the Pituitary Gland
Reed E. Pyeritz
15. Thyroid Disorders
Michel Polak and Gabor Szinnai
16. Diabetes Mellitus
Reed E. Pyeritz
PART IV Skeletal Disorders
17. Common Skeletal Deformities
Reed E. Pyeritz
18. Hereditary Noninflammatory Arthropathies
Mariko L. Ishimori
19. Abnormalities of Bone Structure
Reed E. Pyeritz
20. Osteogenesis Imperfecta and Other Disorders of Bone Matrix
Reed E. Pyeritz