A novel homozygous variant in the comp gene causing a multiple epiphyseal dysplasia 1 with autosomal recessive inheritance

HIGHLIGHTS

• who: Tatiana Markova and collaborators from the (UNIVERSITY) have published the research work: A Novel Homozygous Variant in the COMP Gene Causing a Multiple Epiphyseal Dysplasia 1 with Autosomal Recessive Inheritance, in the Journal: (JOURNAL)
• what: The authors report the first case of patient with MED 1 caused by single nucleotide variant c.2170dupG (p.Val724Glyfs 20) in the gene identified by whole-exome sequencing. The authors report the case of a 12-year-old mild MED phenotype.
• future: Studies are needed to explain the pathogenesis of the moderate clinical manifestations in patients . . .
  

   

  

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