Integrating Deep Phenotyping with Genetic Analysis: a Comprehensive Workflow for Diagnosis and Management of Rare Bone Diseases

Guozhuang Li,Kexin Xu,Xiangjie Yin, Jianle Yang, Jihao Cai, Xinyu Yang, Qing Li, Jie Wang,Zhengye Zhao, Aoran Mahesahti, Ning Zhang,Terry Jianguo Zhang,Nan Wu

ORPHANET JOURNAL OF RARE DISEASES（2024）

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Deep phenotyping,Rare bone diseases,Precision medicine,Human Phenotype Ontology (HPO),Genetic testing,Genetic counseling,Multidisciplinary team (MDT)

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