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-Reference-Cited by-同舟云学术

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

Published:2018-08-27 Issue:12 Volume:176 Page:2803-2807
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Shimada Shino¹²,Hirasawa Kyoko¹,Takeshita Akiko¹,Nakatsukasa Hidetsugu¹,Yamamoto-Shimojima Keiko²³,Imaizumi Taichi³,Nagata Satoru¹,Yamamoto Toshiyuki²³^ORCID

Affiliation:

1. Department of Pediatrics; Tokyo Women's Medical University; Tokyo Japan

2. Institute for Integrated Medical Sciences; Tokyo Women's Medical University; Tokyo Japan

3. Institute of Medical Genetics; Tokyo Women's Medical University; Tokyo Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40500/fullpdf

Reference15 articles.

2. Sister and brother with Vici syndrome: Agenesis of the corpus callosum, albinism, and recurrent infections;Chiyonobu;American Journal of Medical Genetics,2002