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Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese
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 outbred Han–Ch...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057086/ https://www.ncbi.nlm.nih.gov/pubmed/31898422 http://dx.doi.org/10.1002/mgg3.1105 |