DEGS1-related leukodystrophy: a clinical report and review of literature.

Melissa Song Ting Wong,Terrence Thomas,Jiin Ying Lim,Sylvia Kam,Jing Xian Teo,Jianhong Ching,Chew Yin Jasmine Goh,Saumya Shekhar Jamuar,Weng Khong Lim,Ai Ling Koh

Clinical dysmorphology（2023）

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摘要

While rare, pathogenic variants in DEGS1 should be considered in patients with HLD phenotype. To date, 25 patients have been reported across four studies on DEGS1-related HLD, and, in this report, we summarize the literature. More such reports will enable deeper phenotypic characterization of this disorder.

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关键词

DEGS1,global developmental delay,growth failure,hypomyelinating leukodystrophy

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