| Title: |
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene |
| Authors: |
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 |
| Source: |
In Genetics in Medicine December 2019 21(12):2734-2743 |
| Database: |
ScienceDirect |
