UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report
Guiping Zhang, Shiwei Tang, Hongli Wang, Huan Pan, Wei Zhang, Yi Huang, Jing Kong, Yongtao Wang, Juan Gu, Yuhe Wang
Topics & Concepts
ExonShort statureDysplasiaOsteochondrodysplasiaGeneticsHip dysplasiaMutationMedicineGeneAnatomyBiologyInternal medicineSurgeryRadiographyConnective tissue disorders researchUbiquitin and proteasome pathwaysBone Metabolism and Diseases