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Exclusion of mutations in the MTMR1 gene as a frequent cause of X‐linked myotubular myopathy
Authors:LaRae M. Copley  Wei D. Zhao  Kevin Kopacz  Petra Kioschis  Annemarie Poustka  Stefan Taudien  Matthias Platzer
Affiliation:1. Children's Research Institute and Department of Pediatrics, The Ohio State University Columbus, Ohio;2. Cancer Research Center Division of Molecular Genome Analysis, Heidelberg, Germany;3. Institute of Molecular Biotechnology, Genome Analysis, Jena, Germany
Abstract:
Keywords:hand‐foot‐genital syndrome  HOX genes  limb malformations  polyalanine tract expansions  synpolydactyly
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