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Gene Therapy

Research on gene therapy described by L. Bonafe and colleagues

Published in Gene Therapy Weekly, January 22nd, 2009

"Mutations in the sulfate transporter gene SLC26A2 (DTDST) cause a continuum of skeletal dysplasia phenotypes that includes achondrogenesis type 1B (ACG1B), atelosteogenesis type 2 (AO2), diastrophic dysplasia (DTD), and recessive multiple epiphyseal dysplasia (rMED). In 1972, de la Chapelle et al reported two siblings with a lethal skeletal dysplasia, which was denoted ''neonatal osseous dysplasia'' and ''de la Chapelle dysplasia'' (DLCD)," investigators in Lausanne, Switzerland report.

"It was suggested that DLCD might be part of the SLC26A2 spectrum of phenotypes, both because of the Finnish origin of the original family and of radiographic similarities to ACG1B and...

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