Delineation of dual molecular diagnosis in patients with skeletal deformity - Liu, Lian; Sun, Liying; Chen, Yujun; Wang, Muchuan; Yu, Chenxi; Huang, Yingzhao; Zhao, Sen; Du, Huakang; Chen, Shaoke; Fan, Xin; Tian, Wen; Wu, Zhihong; et al. (Orphanet journal of rare diseases, 2022)
Keywords: Bone diseases; Cartilage; Collagen (type I); Congenital diseases; Developmental bone diseases; Diagnosis; Diagnosis, Dual (Psychiatry); Dual molecular diagnosis; Exome sequencing; Fractures; Genetic aspects; Genetic disorders; Health aspects; Humans; Intellectual disabilities; Marfan syndrome; Medical diagnosis; Medical genetics; Medical research; Methods; Neurofibromatosis; Neurofibromatosis 1; Osteogenesis; Osteogenesis imperfecta; Osteogenesis Imperfecta - genetics; Patients; Phenotype; Phenotypes; Phenotypic characteristics; Rare diseases; Risk factors; Scoliosis; Skeletal deformity; Whole Exome Sequencing; Phenotypic characteristics; Skeletal deformity; Dual molecular diagnosis; Medical genetics