最終更新日：2022/12/24
Mutations in this gene are responsible for four recessively inherited chondrodysplasias, including diastrophic dysplasia, multiple epiphyseal dysplasia, atelosteogenesis type 2, and achondrogenesis 1B.
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Mutations in this gene are responsible for four recessively inherited chondrodysplasias, including diastrophic dysplasia, multiple epiphyseal dysplasia, atelosteogenesis type 2, and achondrogenesis 1B.
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