Učitavanje...
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients
Abstract Background Rubinstein‐Taybi syndrome (RSTS) is a rare congenital disorder characterized by broad thumbs and halluces, intellectual disability, distinctive facial features, and growth retardation. Clinical manifestations of RSTS are varied and overlap with other syndromes’ phenotype, which m...
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| Glavni autori: | , , , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Wiley
2019-11-01
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| Serija: | Molecular Genetics & Genomic Medicine |
| Teme: | |
| Online pristup: | https://doi.org/10.1002/mgg3.972 |
| Oznake: |
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