MECOM-related disorder: Radioulnar synostosis without hematological aberration due to unique variants
Fang Shen, Yongjia Yang, Yu Zheng, Pengcheng Li, Zhenqing Luo, Yuyan Fu, Guanghui Zhu, Haibo Mei, Shanlin Chen, Yimin Zhu
Topics & Concepts
Exome sequencingMissense mutationSanger sequencingGeneticsExomeBiologyPhenotypeMedicineMutationGeneElbow and Forearm Trauma TreatmentCongenital limb and hand anomaliesBone Tumor Diagnosis and Treatments