Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy and hypermobility syndrome: Further delineation of the 17p13.3 microdeletion spectrum
Lisa Emrick, Jill Anne Rosenfeld, Seema R. Lalani, Mahim Jain, Nilesh K. Desai, Austin A Larson, Kimberly A. Kripps, Adeline L. Vanderver, Ryan J. Taft, Krista K. Bluske, Denise Perry, Honey Nagakura, LaDonna L. Immken, Lindsay Catherine Burrage, Carlos A. Bacino, , Brendan Lee
The paper investigates 17p13.3 deletions between YWHAE/CRK and PAFAH1B1, identifying white matter lesions and hypermobility, and narrows the critical region to 345 kb with RTN4RL1 as a candidate gene.
Genetics in Medicine · Dec 18, 2018Peer-reviewedGenetics