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

Chin Med J (Engl). 2020 Aug 20;133(16):2009-2011. doi: 10.1097/CM9.0000000000000986.

Authors

Xiu-Wen Wang¹, Ling-Yun Lu^{1

2}, Ying Xie¹, Xi-Jie Yu¹

Affiliations

¹ Department of Endocrinology and Metabolism, Laboratory of Endocrinology and Metabolism, Rare disease Center, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
² Department of Integrated Traditional Chinese and Western Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.

No abstract available

MeSH terms

China
DNA Polymerase III
Deafness*
Female
Humans
Lipodystrophy* / diagnosis
Lipodystrophy* / genetics
Mutation / genetics
Phenotype

Substances

POLD1 protein, human
DNA Polymerase III