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Identification of a novel EVC variant in a Han‐Chinese family with Ellis‐van Creveld syndrome
BACKGROUND: Ellis‐van Creveld syndrome (EVC), a very rare genetic skeletal dysplasia, is clinically characterized by a tetrad consisting of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. The aim of this study was to identify the genetic defect for EVC in a five‐generatio...
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| Publicado en: | Mol Genet Genomic Med |
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| Autores principales: | , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6732296/ https://ncbi.nlm.nih.gov/pubmed/31338997 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.885 |
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