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.

Detalles Bibliográficos
Autores principales: Urreizti, Roser, Gürsoy, Semra, Castilla‐Vallmanya, Laura, Cunill, Guillem, Rabionet, Raquel, Erçal, Derya, Grinberg, Daniel, Balcells, Susana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
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

Internet

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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