Emery and Rimoin's principles and practice of medical genetics and genomics : ophthalmologic, hearing, craniofacial, dermatologic, connective tissue, and skeletal disorders /

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...

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Bibliografiske detaljer
Andre forfattere: Pyeritz, Reed E. (Editor), Korf, Bruce R. (Editor), Grody, Wayne W. (Editor)
Format: Electronisk eBog
Sprog:engelsk
Udgivet: London ; San Diego, CA: Academic Press, an imprint of Elsevier [2024]
Udgivelse:Seventh edition.
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Online adgang:ScienceDirect
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Indholdsfortegnelse:
  • 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-Dub̌ (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.