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

Key Clinical Message Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings. We report the first case in Mali, caused by a novel de novo variant in the RUNX2 gene. Abstract Cleidocranial dysplasia (...

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Autors principals:	Lassana Cissé, 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, Assiatou Simaga, Fatogoma Issa Koné, Oumar Samassekou, Amadou Koné, Cheick Oumar Guinto, Guida Landouré, the H3Africa consortium
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2024-02-01
Col·lecció:	Clinical Case Reports
Matèries:	cleidocranial dysplasia de novo genetic variant Mali RUNX2 West Africa
Accés en línia:	https://doi.org/10.1002/ccr3.8551
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