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
Funding for this research was provided by:
Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (176097)
Jürg Tschopp MD-PhD Scholarship
PhD Fellowship in Life Sciences
National Institutes of Health (U53HD090255)
Japan Agency for Medical Research and Development (JP18ek0109280, JP18dm0107090, JP18ek0109301, JP18ek0109348 and JP18kk020500)
Japan Society for the Promotion of Science (JP17H01539)
Japan Society for the Promotion of Science (JP16H05357)
This article is maintained by: Elsevier
Article 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
Journal Title: Genetics in Medicine
CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-019-0595-x
Content Type: article
Copyright: © 2019, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics