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Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing
Skeletal dysplasias (SDs) comprise a series of severe congenital disorders that have strong clinical heterogeneity and usually attribute to diverse genetic variations. The pathogenesis of more than half of SDs remains unclear. Additionally, the clinical manifestations of fetal SDs are ambiguous, whi...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537022/ https://www.ncbi.nlm.nih.gov/pubmed/31218223 http://dx.doi.org/10.1155/2019/2492590 |