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Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities
Background: Musculocontractural Ehlers–Danlos syndrome (mcEDS) is a rare heritable connective tissue disease with various symptoms. The diagnosis of mcEDS is difficult because of the large overlap of clinical symptoms between different EDS subtypes. Methods: We performed karyotype analysis, gene cop...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9024400/ https://www.ncbi.nlm.nih.gov/pubmed/35464846 http://dx.doi.org/10.3389/fgene.2022.853907 |