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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.
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.
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