Article
New disease gene location and high genetic heterogeneity in idiopathic scoliosis.
European journal of human genetics : EJHG - 1 Aug 2011
Edery Patrick, Margaritte-Jeannin Patricia, Biot Bernard, Labalme Audrey, Bernard Jean-Claude, Chastang Joëlle, Kassai Behrouz, Plais Marie-Helene, Moldovan Florina, Clerget-Darpoux Francoise
Abstract excerpt
Idiopathic scoliosis (IS) is a spine disorder of unknown origin with 1.5-3% prevalence in the general population. Besides the large multifactorial-form sample of IS, there is a good evidence for the existence of a monogenic subgroup in which the disease is inherited in a dominant manner. However, results from literature suggest a strong heterogeneity in the locations of the mutated genes. Using a high-resolution...
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