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

American Journal of Medical Genetics Part A, EarlyView.

Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Shino Shimada , Kyoko Hirasawa , Akiko Takeshita , Hidetsugu Nakatsukasa , Keiko Yamamoto ‐Shimojima , Taichi Imaizumi , Satoru Nagata , Toshiyuki Yamamoto Source Type: research