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: Molecular Genetics of Pediatric Orthopaedic Disorders
  name:
    name part: Wise, Carol A.
    role:
      role term: editor.
  name:
    name part: Rios, Jonathan J.
    role:
      role term: editor.
  name:
    name part: SpringerLink (Online service)
  type of resource: text
  origin info:
    place:
      place term: xxu
    date issued: 2015
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: electronic
    form: electronic resource
    reformatting quality: access
    form: remote
    extent: XII, 168 p. 49 illus., 35 illus. in color. online resource.
  abstract: In the past two decades we have seen a surge forward in understanding the genetics and biochemistry underlying many pediatric orthopaedic disorders. A few projects have even progressed into the realm of clinical trials that are primarily aimed at controlling progressive disease. Meanwhile, genomic technology development has outpaced expectations and is enabling gene discovery for disorders that were previously intractable with traditional genetic methods. Included in this latter category are common disorders that display multigenic inheritance, sporadic disorders, and very rare conditions that are difficult to ascertain. Simultaneously, the study of pediatric orthopaedic disorders has been continuously refined and updated, highlighting a number of likely genetic conditions that are as yet unsolved. Molecular Genetics of Pediatric Orthopaedic Disorders updates researchers and clinicians on new developments of pediatric orthopaedic genetics. The chapters inform the audience on the revolution in new genomic methods, the impact this is having on potential study designs, and the potential to discover genetic causes of many unsolved orthopaedic conditions. Recent examples have been included of pediatric orthopaedic conditions, both rare and common, that are being solved with these new methods. The book also educates geneticists and pediatric orthopedic clinicians on our understanding of the biology of “classic” genetic diseases that were derived from prior genetic studies. Chapters include biobanks and strategies for studying very rare disorders, genes and pathways causing primordial dwarfism, notch signaling in congenital scoliosis, and more.
  table of contents: Overview of next generation, high-throughput molecular genetic methods -- Neurofibromin in skeletal development -- Molecular genetics of congenital multiple large joint dislocation -- DMP-1 in postnatal bone development -- The genetic architecture of idiopathic scoliosis -- Insights into the genetics of clubfoot -- Classification and etiologic dissection of vertebral segmentation anomalies -- Genetic and environmental interaction in malformation of the vertebral column -- Somatic mutations in overgrowth syndromes -- Index.
  note: edited by Carol A. Wise, Jonathan J. Rios.
  subject:
    topic: Medicine
  subject:
    topic: Human genetics
  subject:
    topic: Orthopedics
  subject:
    topic: Biomedicine
  subject:
    topic: Human Genetics
  subject:
    topic: Orthopedics
  subject:
    topic: Biomedicine general
  classification: RB155-155.8
  classification: QH431
  classification: 611.01816
  classification: 599.935
  related item:
    title info:
      title: Springer eBooks
  identifier: 9781493921690
  identifier: http://dx.doi.org/10.1007/978-1-4939-2169-0
  record info:
    record creation date: 150304
    record change date: 20150519185747.0
    record identifier: 978-1-4939-2169-0