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A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia
Abstract Ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome are well-known TP63-related autosomal-dominant genetic disorders with various similar ectodermal dysplasias. In this study, whole-exome sequencing revealed a novel, potentially pathogenic TP63 nonsense var...
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| Main Authors: | , , , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2022-05-01
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| 叢編: | Human Genome Variation |
| 在線閱讀: | https://doi.org/10.1038/s41439-022-00186-w |
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