Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing
Abstract We report a case of a fetus with short-rib thoracic dysplasia (SRTD) with polydactyly that also presented with atypical severe acro-mesomelic ossification defects. Genetic analysis using massively parallel sequencing of a skeletal dysplasia panel revealed compound heterozygous variants in D...
| Main Authors: | , , , , , , , , , |
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| 格式: | 文件 |
| 语言: | English |
| 出版: |
Nature Publishing Group
2024-12-01
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| 丛编: | Human Genome Variation |
| 在线阅读: | https://doi.org/10.1038/s41439-024-00302-y |