Shprintzen–Goldberg syndrome with a novel missense mutation of SKI in a 6-month-old boy
Author(s) -
Min Jin Jeon,
Seul Gi Park,
Man Jin Kim,
Byung Chan Lim,
Ki Joong Kim,
JongHee Chae,
Soo Yeon Kim
Publication year - 2020
Publication title -
journal of genetic medicine
Language(s) - English
Resource type - Journals
ISSN - 2383-8442
DOI - 10.5734/jgm.2020.17.1.43
Subject(s) - missense mutation , pediatrics , genetics , medicine , mutation , biology , gene
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