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Last Updated: 10/31/2025
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Found 7 publications
Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco.
Journal: Bone reports
Published: February 13, 2023
Novel mutation in Teneurin 3 found to co-segregate in all affecteds in a multi-generation family with developmental dysplasia of the hip.
Journal: Journal of orthopaedic research : official publication of the Orthopaedic Research Society
Published: May 17, 2018
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.
Journal: Clinical genetics
Published: July 14, 2017
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.
Journal: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
Published: December 24, 2014
Mucopolysaccharidoses and other lysosomal storage diseases.
Journal: Rheumatic diseases clinics of North America
Published: April 20, 2013
Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint unlinked to COL2A1.
Journal: American journal of medical genetics
Published: December 01, 1994
Beukes familial hip dysplasia: an autosomal dominant entity.
Journal: American journal of medical genetics
Published: August 01, 1990
Showing 1-7 of 7
Last Updated: 10/31/2025