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Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

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Description scientific article
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author: Margherita Cirillo Silengo  Sheila Unger  Roberto Mendoza-Londono  Andrea Superti-Furga 

Publication date June 1, 2010
Language English
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