A novel comp mutation in a chinese family with multiple epiphyseal dysplasia

HIGHLIGHTS

  • who: Jiashen Shao from the Beijing Key Laboratory for Genetic Research of Skeletal Deformity, No, Shuaifuyuan, Beijing, China have published the research work: A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia, in the Journal: (JOURNAL)
  • what: The authors report a four-generation Chinese family with early-onset hip osteoarthritis, flatfoot, brachydactyly, and mild short stature. The authors investigated a four-generation family with early-onset hip osteoarthritis caused by a heterozygous c.1153G > T mutation.
  • how: The raw sequencing data were analyzed through Genome Analysis Toolkit (GATK Version 3 . . .

     

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