Ibrahim, Abukhiran, MD1, Sharathkumar. Bhagavathi,
MBBS, MD1; Heather. McLaughlin, PhD,
FACMG2
David Claassen, MD, PhD3; Anjali Sharathkumar,
MBBS,MD, MS3
1Department of Pathology, University of Iowa Carver
School of Medicine, Iowa City, IA, USA
2Clinical Molecular Geneticist, Invitae, San
Francisco, CA, USA
3Stead Family Department of Pediatrics, University of
Iowa Carver School of Medicine, Iowa City, IA, USA
Running title: CN-SGD due to SMARCD2 mutations
Key words: severe congenital neutropenia; SMARCD2; TPO-receptor
agonist, Romiplostim
Word count : Abstract, 100; Main article with essentials: 1223
Tables: 1; Figures: 2