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Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis |
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| Authors: | Davut Pehlivan Zeynep Coban Akdemir Ender Karaca Yavuz Bayram Shalini Jhangiani Edibe Pembegul Yildiz Donna Muzny Kayihan Uluc Richard A Gibbs Nursel Elcioglu James R Lupski Tamar Harel Baylor-Hopkins Center for Mendelian Genomics |
| Institution: | 1. Section of Neurology, Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, 604B, Houston, TX, 77030, USA 2. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA 3. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA 4. Section of Neurology, Department of Pediatrics, University of Istanbul, School of Medicine, Istanbul, Turkey 5. Department of Pediatric Neurology, Marmara University School of Medicine, Istanbul, Turkey 6. Department of Pediatric Genetics, Marmara University School of Medicine, Istanbul, Turkey 7. Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA 8. Texas Children’s Hospital, Houston, TX, USA |
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