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New phenotype of DCTN1-related spectrum: early-onset dHMN plus congenital foot deformity.
Annals of Clinical and Translational Neurology ( IF 5.3 ) Pub Date : 2020-02-05 , DOI: 10.1002/acn3.50985 Wo-Tu Tian 1 , Li-Hua Liu 2 , Hai-Yan Zhou 1 , Chao Zhang 1 , Fei-Xia Zhan 1 , Ze-Yu Zhu 1 , Sheng-Di Chen 1 , Xing-Hua Luan 1 , Li Cao 1
Annals of Clinical and Translational Neurology ( IF 5.3 ) Pub Date : 2020-02-05 , DOI: 10.1002/acn3.50985 Wo-Tu Tian 1 , Li-Hua Liu 2 , Hai-Yan Zhou 1 , Chao Zhang 1 , Fei-Xia Zhan 1 , Ze-Yu Zhu 1 , Sheng-Di Chen 1 , Xing-Hua Luan 1 , Li Cao 1
Affiliation
To describe the clinical and genetic features of two patients with different phenotypes due to various Dynactin 1 (DCTN1) gene mutations and further explore the phenotype–genotype relationship.
中文翻译：
DCTN1相关谱的新表型：早发性dHMN加先天性足部畸形。
描述由于各种Dynactin 1（DCTN1）基因突变而具有不同表型的两名患者的临床和遗传特征，并进一步探讨表型-基因型关系。
更新日期：2020-02-05
中文翻译：
DCTN1相关谱的新表型：早发性dHMN加先天性足部畸形。
描述由于各种Dynactin 1（DCTN1）基因突变而具有不同表型的两名患者的临床和遗传特征，并进一步探讨表型-基因型关系。
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