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Anauxetic dysplasia 2
- ... for Rare Disorders (NORD) ANAUXETIC DYSPLASIA 1; ANXD1 ANAUXETIC DYSPLASIA 2; ANXD2 PubMed Barraza-Garcia J, Rivera-Pedroza CI, ...
- ... gene mutations have been identified in people with anauxetic dysplasia, a disorder characterized by severe short stature (dwarfism) ... skeletal abnormalities. The RMRP gene mutations that cause anauxetic dysplasia alter the noncoding RNA produced from the gene, ...