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- W4306252194 abstract "Diets-Jongmans syndrome, DIJOS, is a very recently described autosomal dominant condition, which is caused by heterozygous pathogenic variants in KDM3B gene and characterized by impaired intellectual development, short stature, as well as facial dysmorphism. We describe a new DIJOS patient harboring a heterozygous, novel, de novo and likely pathogenic variant in KDM3B gene, which is the first case reported after Diets et al.`s publication, to the best of our knowledge." @default.
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- W4306252194 date "2022-12-01" @default.
- W4306252194 modified "2023-10-01" @default.
- W4306252194 title "A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS" @default.
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- W4306252194 doi "https://doi.org/10.1016/j.ymgmr.2022.100927" @default.
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