Clinical features of the affected family members with mutations in GDF5.
收藏Figshare2015-12-02 更新2026-04-29 收录
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https://figshare.com/articles/dataset/_Clinical_features_of_the_affected_family_members_with_mutations_in_GDF5_/813918
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The features are coded using terms from the Human Phenotype Ontology [47]. + present; − absent. GDF5 mutations are presented with either features of brachydactyly (GDF5 p.R399C) or features of synostosis (GDF5 p.E491K) or a combination of multiple synostosis with additional brachydactyly (GDF5 p.W414R).
创建时间：
2015-12-02
