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Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral‐facial‐digital syndrome type VI |
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| Authors: | Yavuz Bayram Hatip Aydin Tomasz Gambin Zeynep Coban Akdemir Mehmed M Atik Ender Karaca Ali Karaman Davut Pehlivan Shalini N Jhangiani Richard A Gibbs James R Lupski |
| Institution: | 1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas;2. Center of Genetics Diagnosis, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, Istanbul, Turkey;3. Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas;4. Department of Pediatrics, Baylor College of Medicine, Houston, Texas;5. Texas Children's Hospital, Houston, Texas |
| Abstract: | |
| Keywords: | oral‐facial‐digital syndrome type VI C5orf42 ciliopathy |