000 | 03738nam a22004815i 4500 | ||
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001 | 978-1-4939-2169-0 | ||
003 | DE-He213 | ||
005 | 20160405112812.0 | ||
007 | cr nn 008mamaa | ||
008 | 150304s2015 xxu| s |||| 0|eng d | ||
020 |
_a9781493921690 _9978-1-4939-2169-0 |
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024 | 7 |
_a10.1007/978-1-4939-2169-0 _2doi |
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050 | 4 | _aRB155-155.8 | |
050 | 4 | _aQH431 | |
072 | 7 |
_aMFN _2bicssc |
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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. |
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300 |
_aXII, 168 p. 49 illus., 35 illus. in color. _bonline resource. |
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336 |
_atext _btxt _2rdacontent |
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337 |
_acomputer _bc _2rdamedia |
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338 |
_aonline resource _bcr _2rdacarrier |
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347 |
_atext file _bPDF _2rda |
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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 |