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Skeletal Dysplasia, Global Developmental Delay, and Multiple Congenital Anomalies in a 5 year-old boy– Report of the Second Family with B3GAT3 mutation and Expansion of the Phenotype
As a major component of the extracellular matrix, proteoglycans influence the mechanical properties of connective tissue and play an important role in cell-cell and cell-matrix interactions. Genetic defects of proteoglycan biosynthesis lead to multi-system disorders, often most prominently affecting...
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| Publicat a: | Am J Med Genet A |
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| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2014
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4384644/ https://ncbi.nlm.nih.gov/pubmed/24668659 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36487 |
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