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The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up
Nicolaides–Baraitser syndrome (NCBRS) is a rare genetic condition associated with SMARCA2 gene mutations. Clinical diagnosis is challenging as its features evolve with time. The 20 years follow‐up of our NCBRS patient, with a previously unreported SMARCA2 mutation, illustrates the syndrome's na...
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| Опубликовано в: : | Clin Case Rep |
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| Главные авторы: | , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
John Wiley and Sons Inc.
2016
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4831382/ https://ncbi.nlm.nih.gov/pubmed/27099726 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.425 |
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