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This collection of articles describes the current medical and biological knowledge related to VACTERL/VATER association. VACTERL association is a fascinating condition involving malformations that can affect the skeletal, gastrointestinal (and genitourinary), cardiac, pulmonary, and renal systems. The disorder is also related to many other clinically and biologically related conditions. This publication presents cutting-edge summaries and research describing diverse aspects of these conditions, including the latest knowledge related to clinical aspects of disease manifestations and pathogenesis, embryology and developmental biology, key implicated signaling pathways, animal models of disease pathogenesis, techniques of molecular discovery related to the causes of human disease, and important considerations involving the differential diagnosis. This compendium should serve as a touchstone for future clinical and research endeavors as the growing body of medical research continues to unravel the mysteries of VACTERL association.
This collection is anticipated to be valuable to a diverse group of clinicians and researchers. First, by increasing the understanding of aspects of disease etiology and manifestations, the articles may help clinicians who encounter affected patients and families. Second, descriptions of the state-of-the art scientific knowledge may provide biological insight into current models of disease pathogenesis and inspire novel avenues of research.
Sommario
Preface: Solomon, B.D.; Considering the Embryopathogenesis of VACTERL Association: Stevenson, R.E.; Hunter, A.G.W.; VATER/VACTERL Association: Evidence for the Role of Genetic Factors: Reutter, H.; Ludwig, M.; VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations: Brosens, E.; Eussen, H.; van Bever, Y.; van der Helm, R.M.; Ijsselstijn, H.; Zaveri, H.P.; Wijnen, R.; Scott, D.A.; Tibboel, D.; de Klein, A.; Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association: Solomon, B.D.; Pineda-Alvarez, D.E.; Hadley, D.W.; Hansen, N.F.; Kamat, A.; Donovan, F.X.; Chandrasekharappa, S.C.; Hong, S.-K.; Roessler, E.; Mullikin, J.C.; NISC Comparative Sequencing Program; Sonic Hedgehog Signaling and VACTERL Association: Ngan, E.S.-W.; Kim, K.-H.; Hui, C.-c.; Adriamycin-Induced Models of VACTERL Association: Mc Laughlin, D.; Hajduk, P.; Murphy, P.; Puri, P.; Mitochondrial Factors and VACTERL Association-Related Congenital Malformations: Siebel, S.; Solomon, B.D.; Diabetic Embryopathy: A Developmental Perspective from Fertilization to Adulthood: Castori, M.; VACTERL-H Association and Fanconi Anemia: Alter, B.P.; Rosenberg, P.S.; Clinical, Genetic and Environmental Factors Associated with Congenital Vertebral Malformations: Giampietro, P.F.; Raggio, C.L.; Blank, R.D.; McCarty, C.; Broeckel, U.; Pickart, M.A.; Author Index.
