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003 DE-He213
005 20160405112812.0
007 cr nn 008mamaa
008 150304s2015 xxu| s |||| 0|eng d
020 _a9781493921690
_9978-1-4939-2169-0
024 7 _a10.1007/978-1-4939-2169-0
_2doi
050 4 _aRB155-155.8
050 4 _aQH431
072 7 _aMFN
_2bicssc
072 7 _aMED107000
_2bisacsh
082 0 4 _a611.01816
_223
082 0 4 _a599.935
_223
245 1 0 _aMolecular Genetics of Pediatric Orthopaedic Disorders
_h[electronic resource] /
_cedited by Carol A. Wise, Jonathan J. Rios.
264 1 _aNew York, NY :
_bSpringer New York :
_bImprint: Springer,
_c2015.
300 _aXII, 168 p. 49 illus., 35 illus. in color.
_bonline resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
347 _atext file
_bPDF
_2rda
505 0 _aOverview 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.
520 _aIn 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.
650 0 _aMedicine.
650 0 _aHuman genetics.
650 0 _aOrthopedics.
650 1 4 _aBiomedicine.
650 2 4 _aHuman Genetics.
650 2 4 _aOrthopedics.
650 2 4 _aBiomedicine general.
700 1 _aWise, Carol A.
_eeditor.
700 1 _aRios, Jonathan J.
_eeditor.
710 2 _aSpringerLink (Online service)
773 0 _tSpringer eBooks
776 0 8 _iPrinted edition:
_z9781493921683
856 4 0 _uhttp://dx.doi.org/10.1007/978-1-4939-2169-0
912 _aZDB-2-SBL
999 _c3809
_d3809