机译：通过POLD1突变检测诊断出患有下颌发育不全，耳聋，早衰特征和脂肪营养不良（MDPL）的中国女孩
Department of Endocrinology and Metabolism Laboratory of Endocrinology and Metabolism Rare disease Center West China Hospital Sichuan University Chengdu Sichuan 610041 China;
Department of Endocrinology and Metabolism Laboratory of Endocrinology and Metabolism Rare disease Center West China Hospital Sichuan University Chengdu Sichuan 610041 China;
Department of Integrated Traditional Chinese and Western Medicine West China Hospital Sichuan University Chengdu Sichuan 610041 China;
Department of Endocrinology and Metabolism Laboratory of Endocrinology and Metabolism Rare disease Center West China Hospital Sichuan University Chengdu Sichuan 610041 China;
Department of Endocrinology and Metabolism Laboratory of Endocrinology and Metabolism Rare disease Center West China Hospital Sichuan University Chengdu Sichuan 610041 China;
