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  • © 2015

Molecular Genetics of Pediatric Orthopaedic Disorders

  • Updates readers on new developments in pediatric orthopaedic genetics
  • Informs readers about the revolution in new genomic methods and its impact on potential study designs and the potential discovery of genetic causes of many unsolved orthopaedic conditions
  • Includes an overview of next generation, high-throughput molecular genetic methods
  • Includes supplementary material: sn.pub/extras

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Table of contents (9 chapters)

  1. Front Matter

    Pages i-xii
  2. Neurofibromin in Skeletal Development

    • Mateusz Kolanczyk, David A. Stevenson
    Pages 17-38
  3. DMP-1 in Postnatal Bone Development

    • Shuxian Lin, Jerry Jian Q. Feng
    Pages 57-70
  4. Insights into the Genetics of Clubfoot

    • Katelyn S. Weymouth, Susan H. Blanton, Jacqueline T. Hecht
    Pages 91-103
  5. Genetic and Environmental Interaction in Malformation of the Vertebral Column

    • Sally L. Dunwoodie, Duncan B. Sparrow
    Pages 131-151
  6. Somatic Mutations in Overgrowth Syndromes

    • Jonathan J. Rios, Marybeth Ezaki
    Pages 153-165
  7. Back Matter

    Pages 167-168

About this book

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 of new developments of pediatric orthopaedic genetics. The chapters inform the audience on the revolution in new genomic methods and 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 pediatric orthopedic clinicians and geneticists 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, and notch signaling in congenital scoliosis, and more.​

Editors and Affiliations

  • Molecular Genetics, Texas Scottish Rite Hospital for Children, Dallas, USA

    Carol A. Wise

  • Texas Scottish Rite Hospital for Children, Dallas, USA

    Jonathan J. Rios

Bibliographic Information

  • Book Title: Molecular Genetics of Pediatric Orthopaedic Disorders

  • Editors: Carol A. Wise, Jonathan J. Rios

  • DOI: https://doi.org/10.1007/978-1-4939-2169-0

  • Publisher: Springer New York, NY

  • eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)

  • Copyright Information: Springer Science+Business Media New York 2015

  • Hardcover ISBN: 978-1-4939-2168-3Published: 05 March 2015

  • Softcover ISBN: 978-1-4939-4610-5Published: 05 October 2016

  • eBook ISBN: 978-1-4939-2169-0Published: 04 March 2015

  • Edition Number: 1

  • Number of Pages: XII, 168

  • Number of Illustrations: 14 b/w illustrations, 35 illustrations in colour

  • Topics: Human Genetics, Orthopedics, Biomedicine general

Buy it now

Buying options

eBook USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access