竹下 暁子
     School of Medicine School of Medicine(Tokyo Women's Medical University Hospital)
    
Article types Case report
Language English
Peer review Peer reviewed
Title Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome
Journal Formal name:American Journal of Medical Genetics part A
Abbreviation:Am J Med Genet A
ISSN code:1552-4833
Domestic / ForeginForegin
Volume, Issue, Page 176(12),pp.2803-2807
Author & co-author Shimada S, Hirasawa K, Takeshita A, Nakatsukasa H, Yamamoto-Shimojima K, Imaizumi T, Nagata S, Yamamoto T
Publication date 2018/12
DOI ttps://doi.org/10.1002/ajmg.a.40500