A novel pathogenic variant in gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS.

Diets-Jongmans syndrome, DIJOS, is a very recently described autosomal dominant condition, which is caused by heterozygous pathogenic variants in gene and characterized by impaired intellectual development, short stature, as well as facial dysmorphism. We describe a new DIJOS patient harboring a heterozygous, novel, and likely pathogenic variant in gene, which is the first case reported after Diets et al.`s publication, to the best of our knowledge.