Novel compound heterozygous MPDU1 variants causing congenital disorders of glycosylation presenting with erythrokeratodermia variabilis
J Dermatol
.
2024 Jun 3.
doi: 10.1111/1346-8138.17321.
Online ahead of print.
Authors
Ziyu Wei
1
,
Ran Mo
1
,
Yong Yang
1
,
Zhiming Chen
1
Affiliation
1
Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China.
PMID:
38831602
DOI:
10.1111/1346-8138.17321
No abstract available
Publication types
Letter
Grants and funding
2021-I2M-1-018/the Chinese Academy of Medical Sciences Innovation Fund for Medical Sciences (CIFMS)
82203959/National Natural Science Foundation of China