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Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome
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 stature...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580098/ https://www.ncbi.nlm.nih.gov/pubmed/34427995 http://dx.doi.org/10.1002/mgg3.1791 |