A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection.

Author: Xiu-Wen WANG ¹ ; Ling-Yun LU ¹ ; Ying XIE ¹ ; Xi-Jie YU ¹
Author Information

1. Department of Endocrinology and Metabolism, Laboratory of Endocrinology and Metabolism, Rare disease Center, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
Publication Type:Journal Article
From: Chinese Medical Journal 2020;133(16):2009-2011
CountryChina
Language:English