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The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome
In line with a recent study showing that ASXL1 mutations found in the common population cannot be ruled out as pathogenic, we have identified the ASXL1 p.Gly646Trpfs*12 mutation—present in 132 individuals in ExAC—as a very probable cause of the disease in a Bohring‐Opitz syndrome patient.
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099046/ https://www.ncbi.nlm.nih.gov/pubmed/30147881 http://dx.doi.org/10.1002/ccr3.1603 |
| _version_ | 1783348582134317056 |
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| author | Urreizti, Roser Gürsoy, Semra Castilla‐Vallmanya, Laura Cunill, Guillem Rabionet, Raquel Erçal, Derya Grinberg, Daniel Balcells, Susana |
| author_facet | Urreizti, Roser Gürsoy, Semra Castilla‐Vallmanya, Laura Cunill, Guillem Rabionet, Raquel Erçal, Derya Grinberg, Daniel Balcells, Susana |
| author_sort | Urreizti, Roser |
| collection | PubMed |
| description | In line with a recent study showing that ASXL1 mutations found in the common population cannot be ruled out as pathogenic, we have identified the ASXL1 p.Gly646Trpfs*12 mutation—present in 132 individuals in ExAC—as a very probable cause of the disease in a Bohring‐Opitz syndrome patient. |
| format | Online Article Text |
| id | pubmed-6099046 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2018 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-60990462018-08-24 The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome Urreizti, Roser Gürsoy, Semra Castilla‐Vallmanya, Laura Cunill, Guillem Rabionet, Raquel Erçal, Derya Grinberg, Daniel Balcells, Susana Clin Case Rep Case Reports In line with a recent study showing that ASXL1 mutations found in the common population cannot be ruled out as pathogenic, we have identified the ASXL1 p.Gly646Trpfs*12 mutation—present in 132 individuals in ExAC—as a very probable cause of the disease in a Bohring‐Opitz syndrome patient. John Wiley and Sons Inc. 2018-06-10 /pmc/articles/PMC6099046/ /pubmed/30147881 http://dx.doi.org/10.1002/ccr3.1603 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
| spellingShingle | Case Reports Urreizti, Roser Gürsoy, Semra Castilla‐Vallmanya, Laura Cunill, Guillem Rabionet, Raquel Erçal, Derya Grinberg, Daniel Balcells, Susana The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome |
| title | The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome |
| title_full | The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome |
| title_fullStr | The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome |
| title_full_unstemmed | The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome |
| title_short | The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome |
| title_sort | asxl1 mutation p.gly646trpfs*12 found in a turkish boy with bohring‐opitz syndrome |
| topic | Case Reports |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099046/ https://www.ncbi.nlm.nih.gov/pubmed/30147881 http://dx.doi.org/10.1002/ccr3.1603 |
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