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Pseudoachondroplasia — Gene Therapy & Clinical Trials | FollowGene
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Pseudoachondroplasia
Pseudoachondroplasia
Prevalence:
1/30000
skeletal
Official
·
OMIM:177170
Official
·
ORPHA750
Short stature and skeletal anomalies due to COMP gene mutations.
Associated Genes
COMP
Cartilage Oligomeric Matrix Protein
Chromosome 19
Autosomal Dominant