1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes.
Brodie SA, Rodriguez-Aulet JP, Giri N, Dai J, Steinberg M, Waterfall JJ, Roberson D, Ballew BJ, Zhou W, Anzick SL, Jiang Y, Wang Y, Zhu YJ, Meltzer PS, Boland J, Alter BP, Savage SA.
Brodie SA, et al. Among authors: giri n.
Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004564. doi: 10.1101/mcs.a004564. Print 2019 Dec.
Cold Spring Harb Mol Case Stud. 2019.
PMID: 31836590
Free PMC article.