Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree.
Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK.
Hickey SE, et al.
Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004176. doi: 10.1101/mcs.a004176. Print 2019 Dec.
Cold Spring Harb Mol Case Stud. 2019.
PMID: 31836586
Free PMC article.
A heterozygous in-frame deletion in FLNB c. 5468_5470delAGG, which predicts p.(Glu1823del), segregated with the disease. The variant is rare in the gnomAD database, removes a residue that is evolutionarily conserved, and is predicted to alter protein length. ...
A heterozygous in-frame deletion in FLNB c. 5468_5470delAGG, which predicts p.(Glu1823del), segregated with the disease. The variant …