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Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum
Rubinstein–Taybi syndrome is associated with intellectual and physical features. CREBBP and EP300 are causative. Few cases of EP300 mutations are reported. We report a case with mild features of RSTS and EP300 mutation on exome sequencing. This illustrates the utility of exome sequencing to expand e...
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| Vydáno v: | Clin Case Rep |
|---|---|
| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4929809/ https://ncbi.nlm.nih.gov/pubmed/27386132 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.598 |
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