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

Spondyloepimetaphyseal dysplasia (SEMD) is characterized by vertebral, epiphyseal, and metaphyseal alterations. Patients become predominantly apparent with disproportionate short stature. The genetic background of SEMD is heterogeneous, with different modes of inheritance (autosomal dominant, autoso...

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Detalles Bibliográficos
Autores principales:	Mattern, Larissa, Begemann, Matthias, Delbrück, Heide, Holschbach, Petra, Schröder, Silvia, Schacht, Sabine M., Kurth, Ingo, Elbracht, Miriam
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10193157/ https://www.ncbi.nlm.nih.gov/pubmed/37214758 http://dx.doi.org/10.1016/j.bonr.2023.101683

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