Article
Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.
The Journal of experimental medicine - 7 Jun 2021
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
Abstract excerpt
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 by single nucleotide variants that prevent silencing of ANKRD26 expression during hematopoietic differentiation....
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