Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia
Abstract Background Skeletal dysplasia (SD) is one of the most common inherited neonatal disorders worldwide, where the recurrent pathogenic mutations in the FGFR2, FGFR3, COL1A1, COL1A2 and COL2A1 genes are frequently reported in both non-lethal and lethal SD. The traditional prenatal diagnosis of...
| 主要な著者: | , , , , , , |
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| フォーマット: | 論文 |
| 言語: | English |
| 出版事項: |
BMC
2021-11-01
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| シリーズ: | BMC Medical Genomics |
| 主題: | |
| オンライン･アクセス: | https://doi.org/10.1186/s12920-021-01063-1 |