Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome
Abstract Background Rubinstein–Taybi syndrome (RSTS) is a rare congenital malformation syndrome with clinical characteristics such as hypertrichosis, high arched eyebrows, large beaked nose, and broad thumbs and halluces. RSTS patients showed intellectual disability and health problems such as short...
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| Auteurs principaux: | , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Wiley
2021
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| Accès en ligne: | https://doaj.org/article/3c3aa8b1be5444b48fb1e853d41902ed |
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