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Details for article 4 of 19 found articles
| Title: |
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay |
| Author: |
Morimoto, Marie Waller-Evans, Helen Ammous, Zineb Song, Xiaofei Strauss, Kevin A. Pehlivan, Davut Gonzaga-Jauregui, Claudia Puffenberger, Erik G. Holst, Charles R. Karaca, Ender Brigatti, Karlla W. Maguire, Emily Coban-Akdemir, Zeynep H. Amagata, Akiko Lau, C. Christopher Chepa-Lotrea, Xenia Macnamara, Ellen Tos, Tulay Isikay, Sedat Nehrebecky, Michele Overton, John D. Klein, Matthew Markello, Thomas C. Posey, Jennifer E. Adams, David R. Lloyd-Evans, Emyr Lupski, James R. Gahl, William A. Malicdan, May Christine V. |
| Appeared in: |
The American journal of human genetics |
| Paging: | Volume 103 (2018) nr. 5 pages 794-807 |
| Year: |
2018 |
| Contents: | |
| Publisher: |
Published by Elsevier B.V. |
| Source file: |
Elektronische Wetenschappelijke Tijdschriften |
Details for article 4 of 19 found articles
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