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.