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Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco

Authors :
Larissa Mattern
Matthias Begemann
Heide Delbrück
Petra Holschbach
Silvia Schröder
Sabine M. Schacht
Ingo Kurth
Miriam Elbracht
Source :
Bone Reports. 18:101683
Publication Year :
2023
Publisher :
Elsevier BV, 2023.

Subjects

Subjects :
Endocrinology, Diabetes and Metabolism
Orthopedics and Sports Medicine

Details

ISSN :
23521872
Volume :
18
Database :
OpenAIRE
Journal :
Bone Reports
Accession number :
edsair.doi...........33c7768655477f6cefaef8c5b9133b6e
Full Text :
https://doi.org/10.1016/j.bonr.2023.101683
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