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Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans

Giampietro, PF; Dunwoodie, SL; Kusumi, K; Pourquie, O; Tassy, O; Offiah, AC; ... Turnpenny, PD; + view all (2009) Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans. Year in Human and Medical Genetics 2009 , 1151 38 - 67.

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Abstract

Vertebral malformations contribute substantially to the pathophysiology of kyphosis and scoliosis, common health problems associated with back and neck pain, disability, cosmetic disfigurement, and functional distress. This review explores (1) recent advances in the understanding of the molecular embryology underlying vertebral development and relevance to elucidation of etiologies of several known human vertebral malformation syndromes; (2) outcomes of molecular studies elucidating genetic contributions to congenital and sporadic vertebral malformation; and (3) complex interrelationships between genetic and environmental factors that contribute to the pathogenesis of isolated syndromic and non-syndromic congenital vertebral malformation. Discussion includes exploration of the importance of establishing improved classification systems for vertebral malformation, future directions in molecular and genetic research approaches to vertebral malformation, and translational value of research efforts to clinical management and genetic counseling of affected individuals and their families

Type:Article
Title:Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans
Additional information:WoS ID: 000263365700004 S
Keywords:classification, congenital, development, embryology, etiology, Family, health, Humans, Pain, Research, Syndrome, understanding
UCL classification:UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health

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