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

Concepedia

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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 the PISD gene

DOI Full Paper Access

48

Citations

31

References

2019

Year

Virginie G. Peter, Mathieu Quinodoz, Jorge Pinto‐Basto, Sérgio B. Sousa, Silvio Alessandro Di Gioia, Gabriela Soares, Gabriela Ferraz Leal, Eduardo Silva, Rosanna Pescini Gobert, Noriko Miyake,

Genetics in Medicine

References

	Year	Citations

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