The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

PURPOSE: We observed four individuals in two unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature. The phenotype precisel...

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Veröffentlicht in:Genet Med
Hauptverfasser: Peter, Virginie G., Quinodoz, Mathieu, Pinto-Basto, Jorge, Sousa, Sergio B., Di Gioia, Silvio Alessandro, Soares, Gabriela, Ferraz Leal, Gabriela, Silva, Eduardo D., Pescini Gobert, Rosanna, Miyake, Noriko, Matsumoto, Naomichi, Engle, Elizabeth C., Unger, Sheila, Shapiro, Frederic, Superti-Furga, Andrea, Rivolta, Carlo, Campos-Xavier, Belinda
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group US 2019
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6892740/
https://ncbi.nlm.nih.gov/pubmed/31263216
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0595-x
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