关键词: COL2A1 Sutcliffe type corner fracture developmental coxa vara skeletal dysplasia spondylometaphyseal dysplasia
Mesh : Alleles Amino Acid Substitution Bone Diseases, Developmental / diagnosis genetics Child, Preschool Collagen Type II / genetics Diagnosis, Differential Exome Genetic Association Studies Genotype Growth Disorders / diagnosis genetics High-Throughput Nucleotide Sequencing Hip Joint / abnormalities Humans Infant Male Mutation Osteochondrodysplasias / diagnosis genetics Phenotype Radiography Tibial Fractures / diagnosis genetics
来 源:
DOI:10.1002/ajmg.a.38059
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