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Main Title Molecular Genetics of Pediatric Orthopaedic Disorders [electronic resource] /
Type EBOOK
Other Authors
Author Title of a Work
Wise, Carol A.
Rios, Jonathan J.
Publisher Springer New York : Imprint: Springer,
Year Published 2015
Call Number RB155-155.8; QH431
ISBN 9781493921690
Subjects Medicine ; Human genetics ; Orthopedics
Internet Access
Description Access URL
http://dx.doi.org/10.1007/978-1-4939-2169-0
Collation XII, 168 p. 49 illus., 35 illus. in color. online resource.
Notes
Due to license restrictions, this resource is available to EPA employees and authorized contractors only
Contents Notes
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. 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.