| Autor: |
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 |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
Clinical Case Reports, Vol 12, Iss 2, Pp n/a-n/a (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2050-0904 |
| DOI: |
10.1002/ccr3.8551 |
| Popis: |
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 (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 the RUNX2 gene causing a severe phenotype of CCD in a Malian girl. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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