RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease

  • Blood. 2022 Mar 3;139(9):1413-1418. doi: 10.1182/blood.2021012334.
Sandeep N Wontakal  1 ,  Mishan Britto  2 ,  Huan Zhang  3 ,  Yongshuai Han  3 ,  Chengjie Gao  3 ,  Sarah Tannenbaum  4 ,  Benjamin H Durham  1  5 ,  Margaret T Lee  4 ,  Xiuli An  3 ,  Masanori Mishima  2
Affiliations
  • 1. Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY.
  • 2. Centre for Mechanochemical Cell Biology & Division of Biomedical Sciences, Warwick Medical School, University of Warwick, Coventry, United Kingdom.
  • 3. Laboratory of Membrane Biology, New York Blood Center, New York, NY.
  • 4. Department of Pediatrics, Columbia University Irving Medical Center, New York, NY; and.
  • 5. Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY.
PMID: 34818416 DOI: 10.1182/blood.2021012334