Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese
Abstract Background Skeletal disorders, which have great genotypic and phenotypic varieties, are a considerable challenge to differentiate these diseases and provide a definitive prenatal diagnosis or pre‐implantation. The present study aims to identify the causative mutation in two unrelated outbre...
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| Principais autores: | , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Wiley
2020-03-01
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| Serier: | Molecular Genetics & Genomic Medicine |
| Fag: | |
| Online adgang: | https://doi.org/10.1002/mgg3.1105 |
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