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...
| Auteurs principaux: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Langue: | English |
| Publié: |
Nature Publishing Group
2024-12-01
|
| Collection: | Human Genome Variation |
| Accès en ligne: | https://doi.org/10.1038/s41439-024-00302-y |