http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
Emery and Rimoin's principles and practice of medical genetics and genomics
Ophthalmologic, hearing, craniofacial, dermatologic, connective tissue, and skeletal disorders
Principles and practice of medical genetics and genomics
1 online resource (xv, 678 pages) : illustrations (some color)
In this volume of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, leading physicians and researchers 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.
Part I. Connective Tissue Disorders. Marfan Syndrome ; Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders ; Disorders of Bone Density, Volume, and Mineralization ; Osteochondrodysplasias -- Part II. Dermatologic Disorders. Abnormalities of Pigmentation ; Ichthyosiform Dermatoses ; Epidermolysis Bullosa ; Ectodermal Dysplasias ; The Genetics of Skin Cancer ; Genetics of Psoriasis ; Cutaneous Hamartoses-Renal Cancer Syndromes: Birt-Hogg-Dubé (BHD) Syndrome and Hereditary Leiomyomatosis and Renal Cancer (HLRCC) ; Inherited Disorders of the Hair -- Part III. Endocrinologic Disorders. Genetic Disorders of the Adrenal Gland ; Genetic Disorders of the Pituitary Gland ; Thyroid Disorders ; Diabetes Mellitus -- Part IV. Skeletal Disorders. Common Skeletal Deformities ; Hereditary Noninflammatory Arthropathies ; Abnormalities of Bone Structure ; Osteogenesis Imperfecta and Other Disorders of Bone Matrix.
edited by Reed E. Pyeritz, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States ; Bruce R. Korf ,University of Alabama at Birmingham, Birmingham, AL, United States ; Wayne W. Grody, UCLA School of Medicine, Los Angeles, CA, United States.
Includes bibliographical references and index.
Chantilly : Elsevier Science & Technology,c2024