Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
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| Description | scientific article published on 25 October 2018 |
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author: Jennifer E. Posey Xenia Chepa-Lotrea Claudia Gonzaga-Jauregui Tulay Tos Charles Holst Davut Pehlivan Ellen Macnamara Ender Karaca James R. Lupski |
| Publication date | October 25, 2018 |
| Language | English |
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