rdf-syntax-grammar
mods:
  schema location: http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
  title info:
    title: Emery and Rimoin's principles and practice of medical genetics and genomics
    sub title: Ophthalmologic, hearing, craniofacial, dermatologic, connective tissue, and skeletal disorders
  title info:
    title: Principles and practice of medical genetics and genomics
  title info:
    title: Medical genetics and genomics
  name:
    name part: Pyeritz, Reed E.
    role:
      role term: editor.
  name:
    name part: Korf, Bruce R.
    role:
      role term: editor.
  name:
    name part: Grody, Wayne W.
    role:
      role term: editor.
  name:
    name part: ScienceDirect (Online service)
  type of resource: text
  genre: bibliography
  genre: Electronic books.
  origin info:
    place:
      place term: enk
    date issued: 2024
    copyright date: 2025
    edition: Seventh edition.
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: remote
    extent: 1 online resource (xv, 678 pages) : illustrations (some color)
  abstract: 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.
  table of contents: 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.
  note: 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.
  note: Includes bibliographical references and index.
  subject:
    topic: Medical genetics
  subject:
    topic: Eye
    topic: Diseases
    topic: Genetic aspects
  subject:
    topic: Head
    topic: Diseases
    topic: Genetic aspects
  subject:
    topic: Skin
    topic: Diseases
    topic: Genetic aspects
  subject:
    topic: Connective tissues
    topic: Diseases
    topic: Genetic aspects
  subject:
    topic: Skeleton
    topic: Diseases
    topic: Genetic aspects
  subject:
    topic: Genetics, Medical
  subject:
    topic: Génétique médicale
  subject:
    topic: Œil
    topic: Maladies
    topic: Aspect génétique
  subject:
    topic: Tête
    topic: Maladies
    topic: Aspect génétique
  subject:
    topic: Peau
    topic: Maladies
    topic: Aspect génétique
  subject:
    topic: Squelette
    topic: Maladies
    topic: Aspect génétique
  classification: RB155 .E44 2025
  classification: 616/.042
  classification: QZ 50
  related item:
    title info:
      title: Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics
    name:
      name part: Pyeritz, Reed E.
    origin info:
      publisher: Chantilly : Elsevier Science & Technology,c2024
    identifier: (OCoLC)1518006400
  identifier: 9780128126790
  identifier: 0128126795
  identifier: 9780128125311
  identifier: 0128125314
  identifier: http://proxy.library.tamu.edu/login
  record info:
    record content source: EBLCP
    record creation date: 241116
    record change date: 20260327180734.5
    record identifier: in00005774165
    language of cataloging:
      language term: eng