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Article

Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.

Clinical genetics - 1 Mar 2018

Di Rocco M, Rusmini M, Caroli F, Madeo A, Bertamino M, Marre-Brunenghi G, Ceccherini I

Abstract excerpt

Beukes hip dysplasia is an autosomal dominant disease which has to date been described only in a large South African family of Dutch origin. The patients presented with progressive epiphyseal dysplasia limited to femoral capital epiphysis and their height was not significantly reduced. A unique variant of the ubiquitin-fold modifier 1 (Ufm1)-specific peptidase 2 (UFSP2) gene (c.868T>C) has been reported in all...

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Source

Identifiers

PMID: 28892125
DOI: 10.1111/cge.13134

Genes

UFSP2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.PMID 28892125Read ↗

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