The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
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| Description | scientific article published on 02 July 2019 |
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author: Naomichi Matsumoto Sheila Unger Andrea Superti-Furga Silvio Alessandro Di Gioia Mathieu Quinodoz Rosanna Pescini Gobert Elizabeth C. Engle Virginie G. Peter Carlo Rivolta |
| Publication date | July 2, 2019 |
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