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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: ferraz leal g. 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.
Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome.
Gomes ME, Calatrava Paternostro L, Moura VR, Antunes D, Caffarena ER, Horovitz D, Sanseverino MT, Ferraz Leal G, Felix TM, Pontes Cavalcanti D, Clinton Llerena J Jr, Gonzalez S. Gomes ME, et al. Among authors: ferraz leal g. Mol Syndromol. 2020 Jan;10(5):255-263. doi: 10.1159/000501892. Epub 2019 Aug 15. Mol Syndromol. 2020. PMID: 32021596 Free PMC article.