Abstract
A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype
Published Version
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https://doi.org/10.1016/j.gendis.2022.08.005
Journal: Genes & Diseases | Publication Date: Aug 30, 2022 |
License type: cc-by-nc-nd |
A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype
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