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

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

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• Genética médica
• Terapia genética

<p>Medical Genetics, Precision Medicine; Clinical Genetics; Clinical Genomics; Color Vision Defects; Optic Atrophy; Glaucoma; Defects of the Cornea; Congenital Cataracts; Genetic Anomalies of the Lens; Hereditary Retinal and Choroidal Dystrophies; Strabismus; Anophthalmia; Hereditary Hearing Impairment; Abnormalities of Pigmentation; Ichthyosiform Dermatoses; Epidermolysis Bullosa; Ectodermal Dysplasias; Epidermal Nevus; Psoriasis; Cutaneous; Hamartoneoplastic Disorders; Inherited Disorders of the Hair, Marfan Syndrome, Ehlers-Danlos Syndrome, Elastic Fibers, Osteogenesis Imperfecta, Disorders of Bone Density; Chondrodysplasias; Abnormalities of Bone Structure; The Dysostoses; Arthrogryposes; Common Skeletal Deformities; Hereditary; Noninflammatory Arthropathies; Cohesinopathies; Human Ciliopathies</p>