Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia.
Hossein AnsariJavad Mohammadi-AslMohammadreza HajjariMaryam Tahmasebi BirganiAbolghasem KollaeeFarzad Jassemi-ZerganiAmin Vakili-HajiaghaPublished in: The journal of gene medicine (2019)
The findings of the present study suggest consideration of the c.896 G>A variant of the COMP gene with respect to the genetic counseling of inherited skeletal dysplasia in Iran.