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"Achondrogenesis," type IB
- ... Testing Registry: Achondrogenesis, type IA Genetic Testing Registry: Achondrogenesis, type IB Achondrogenesis National Organization for Rare Disorders (NORD) ACHONDROGENESIS, ...
- ... mutations appear to be relatively common causes of achondrogenesis type 1B. One of these mutations deletes a single protein ... 1020_1022delTGT.The SLC26A2 gene mutations that cause achondrogenesis type 1B prevent the production of any functional protein from ...