A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection
A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection
作者:
作者单位:
Department of Endocrinology and Metabolism, Laboratory of Endocrinology and Metabolism, Rare disease Center, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China
[1]
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
[2]
期刊:
《中华医学杂志英文版》2020年133卷16期 2009-2011页
SCIMEDLINEISTICCSCDBP
栏目名称:
Correspondence
DOI:
10.1097/CM9.0000000000000986
发布时间:
2024-03-19
基金项目:
This work was supported by grants from the National Natural Science Foundation of China
the Science and Technology Department of Sichuan Province
the Sichuan University
the National Clinical Research Center for Geriatrics of West China Hospital
the 1.3.5 Project for Disciplines of Excellence, West China Hospital, Sichuan University
This work was supported by grants from the National Natural Science Foundation of China
the Science and Technology Department of Sichuan Province
the Sichuan University
the National Clinical Research Center for Geriatrics of West China Hospital
the 1.3.5 Project for Disciplines of Excellence, West China Hospital, Sichuan University
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