GM3 synthase deficiency due toST3GAL5variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype-Reference-Cited by-同舟云学术

GM3 synthase deficiency due toST3GAL5variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype

Published:2016-05-27 Issue:8 Volume:170 Page:2200-2205
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Lee Jin Sook¹,Yoo Yongjin²,Lim Byung Chan³,Kim Ki Joong³,Song Junghan⁴,Choi Murim²,Chae Jong-Hee³

Affiliation:

1. Department of Pediatrics; Gachon Institute of Genome Medicine and Science; Gachon University Gil Medical Center; Incheon Korea

2. Department of Biomedical Sciences; Seoul National University College of Medicine; Seoul Korea

3. Department of Pediatrics; Seoul National University College of Medicine; Pediatric Clinical Neuroscience Center; Seoul National University Children's Hospital; Seoul Korea

4. Department of Laboratory Medicine; Seoul National University Bundang Hospital; Seoul National University College of Medicine; Gyeonggi-do Korea

Funder

Ministry for Health and Welfare, Republic of Korea

Ministry of Science, ICT and Future Planning

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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