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

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第一作者： Larissa,Mattern

第一单位： Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.

作者： Larissa,Mattern ^[1] ; Matthias,Begemann ^[1] ; Heide,Delbrück ^[2] ; Petra,Holschbach ^[3] ; Silvia,Schröder ^[2] ; Sabine M,Schacht ^[4] ; Ingo,Kurth ^[1] ; Miriam,Elbracht ^[1]

作者单位： Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany. ^[1] Department of Orthopaedic, Trauma and Reconstructive Surgery, Medical Faculty, RWTH Aachen University, Aachen, Germany. ^[2] Department of Pediatrics, Division of Neuropediatrics and Social Pediatrics, Medical Faculty, RWTH Aachen University, Aachen, Germany. ^[3] Department of Diagnostic and Interventional Radiology, Medical Faculty, RWTH Aachen University, Aachen, Germany. ^[4]

关键词 Beukes hip dysplasia Skeletal dysplasia Spondyloepimetaphyseal dysplasia UFM1 UFSP2

DOI 10.1016/j.bonr.2023.101683

PMID 37214758

发布时间 2023-05-23

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

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

Bone reports

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