Platelet findings in 22q11.2 Deletion Syndrome correlate with disease manifestations but do not correlate with GP1b surface expression
Ian M. Campbell, Terrence Blaine Crowley, Chintan Jobaliya, Alice Bailey, Daniel E. McGinn, Kimberly B. Gaiser, Anne S. Bassett, Raquel E. Gur, Bernice E. Morrow, Beverly S. Emanuel, Aime T. Franco, Deborah L. French, Elaine H. Zackai, Donna M. McDonald‐McGinn, Michele P. Lambert
The paper examines platelet parameters in 22q11.2 deletion syndrome patients, finding that deletion status of GP1BB, not surface expression, determines platelet counts and that counts decrease with age.
Clinical Genetics · Sep 8, 2022Peer-reviewedGenetic & Genomic Medicine