PhenomeGene — Human Disease Gene Website SeriesUFSP2

Publications

Ni M et al. A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy.Genet Med 2021 Vol. 23 Issue 5 Pages 900-908. PMID: 33473208.

Di Rocco M et al. Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. Clin Genet 2018 Vol. 93 Issue 3 Pages 671-674. PMID: 28892125.

Watson CM et al. Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia. S Afr Med J 2015 Vol. 105 Issue 7 Pages 558-63. PMID: 26428751.