Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.
Merico D, Pasternak Y, Zarrei M, Higginbotham EJ, Thiruvahindrapuram B, Scott O, Willett-Pachul J, Grunebaum E, Upton J, Atkinson A, Kim VHD, Aliyev E, Fakhro K, Scherer SW, Roifman CM.
Merico D, et al. Among authors: grunebaum e.
NPJ Genom Med. 2021 Nov 18;6(1):96. doi: 10.1038/s41525-021-00263-z.
NPJ Genom Med. 2021.
PMID: 34795304
Free PMC article.