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Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia
Skeletal dysplasia is a complex group of bone and cartilage disorders with strong clinical and genetic heterogeneity. Several types have prenatal phenotypes, and it is difficult to make a molecular diagnosis rapidly. In this study, the genetic cause of 16 Chinese fetuses with skeletal dysplasia were...
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| Veröffentlicht in: | Front Genet |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Frontiers Media S.A.
2021
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7987927/ https://ncbi.nlm.nih.gov/pubmed/33777089 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.599863 |
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