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| 003 | ES-MaUEC | ||
| 005 | 20230207040318.0 | ||
| 007 | cr nn 008mamaa | ||
| 008 | 150304s2015 xxu| s |||| 0|eng d | ||
| 020 | _a9781493921690 | ||
| 024 | 7 |
_a10.1007/978-1-4939-2169-0 _2doi |
|
| 040 | _dES-MaUEC | ||
| 050 | 4 |
_aRD732.3.C48 _bM654 2015 |
|
| 245 | 1 | 0 |
_aMolecular Genetics of Pediatric Orthopaedic Disorders _cedited by Carol A. Wise, Jonathan J. Rios. |
| 260 |
_aNew York _bSpringer International Publishing _c2015 |
||
| 300 |
_a1 recurso en línea (XII, 168 p.) _b49 ilustraciones, 35 ilustraciones en color |
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| 336 |
_aTexto (visual) _btxt _2rdacontent |
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| 337 |
_aelectrónico _bc _2rdamedia |
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| 338 |
_arecurso electrónico _bcr _2rdacarrier |
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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 andÂ{u0964}iatric orthopedic clinicians on our understanding of the biology of “classicâ€{u09E5}netic 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 | 7 |
_2embne _9142350 _aOrtopedia infantil |
|
| 700 | 1 |
_aWise, Carol A _eeditor literario _993462 _0Local |
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| 700 | 1 |
_aRios, Jonathan J _eeditor literario _993463 _0Local |
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| 856 | 4 | 0 |
_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://link.springer.com/book/10.1007/978-1-4939-2169-0 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid) |
| 907 |
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