Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript

Advances in genome sequencing have resulted in the identification of the causes for numerous rare diseases. However, many cases remain unsolved with standard molecular analyses. We describe a family presenting with a phenotype resembling inherited thrombocytopenia 2 (THC2). THC2 is generally caused...

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Detalles Bibliográficos
Autores principales: Wahlster, Lara, Verboon, Jeffrey M., Ludwig, Leif S., Black, Susan C., Luo, Wendy, Garg, Kopal, Voit, Richard A., Collins, Ryan L., Garimella, Kiran, Costello, Maura, Chao, Katherine R., Goodrich, Julia K., DiTroia, Stephanie P., O’Donnell-Luria, Anne, Talkowski, Michael E., Michelson, Alan D., Cantor, Alan B., Sankaran, Vijay G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2021
Materias:
Brief Definitive Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8056752/
https://www.ncbi.nlm.nih.gov/pubmed/33857290
http://dx.doi.org/10.1084/jem.20210444

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