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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 |