The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
Peter VG, Quinodoz M, Pinto-Basto J, Sousa SB, Di Gioia SA, Soares G, Ferraz Leal G, Silva ED, Pescini Gobert R, Miyake N, Matsumoto N, Engle EC, Unger S, Shapiro F, Superti-Furga A, Rivolta C, Campos-Xavier B.
Peter VG, et al. Among authors: shapiro f.
Genet Med. 2019 Dec;21(12):2734-2743. doi: 10.1038/s41436-019-0595-x. Epub 2019 Jul 2.
Genet Med. 2019.
PMID: 31263216
Free PMC article.