A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl

We report the first case in Mali, caused by a novel de novo variant in the RUNX2 gene.AbstractCleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by an aplastic/hypoplastic clavicles, patent sutures and fontanels, dental abnormalities and a variety of other skeletal changes. We report a novel de novo variant in theRUNX2 gene causing a severe phenotype of CCD in a Malian girl.

Source: Clinical Case Reports - February 27, 2024 Category: General Medicine Authors: Lassana Ciss é, Abdoulaye Yalcouyé, Kadidia Oumar Touré, Youlouza Coulibaly, Alassane Baneye Maiga, Salia Bamba, Dramane Diallo, Salimata Diarra, Abdoulaye Taméga, Oumou Traoré, Mahamadou Kotioumbé, Moussa Aly Sangaré, Hamidou Oumar Ba, Tags: CASE REPORT Source Type: research