Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype

Wen-Liang Chen, Wenhua Zhu, Satomi Mitsuhashi, Satoru Noguchi, Michael Sacher, Megumu Ogawa, Hsiang-Hung Shih, Yuh-Jyh Jong, Ichizo Nishino

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31 Scopus citations

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Medicine & Life Sciences