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...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :J Exp Med
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: Rockefeller University Press 2021
Предметы:
Brief Definitive Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC8056752/
https://ncbi.nlm.nih.gov/pubmed/33857290
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20210444
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы