A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl
In: Clinical Case Reports ; volume 12, issue 2 ; ISSN 2050-0904, 2024
academicJournal
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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.
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A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl
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Autor/in / Beteiligte Person: | Cissé, Lassana ; Yalcouyé, Abdoulaye ; Touré, Kadidia Oumar ; Coulibaly, Youlouza ; Maiga, Alassane Baneye ; Bamba, Salia ; Diallo, Dramane ; Diarra, Salimata ; Taméga, Abdoulaye ; Traoré, Oumou ; Kotioumbé, Mahamadou ; Sangaré, Moussa Aly ; Ba, Hamidou Oumar ; Simaga, Assiatou ; Koné, Fatogoma Issa ; Samassekou, Oumar ; Koné, Amadou ; Guinto, Cheick Oumar ; Landouré, Guida ; National Institute of Neurological Disorders and Stroke |
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Zeitschrift: | Clinical Case Reports ; volume 12, issue 2 ; ISSN 2050-0904, 2024 |
Veröffentlichung: | Wiley, 2024 |
Medientyp: | academicJournal |
DOI: | 10.1002/ccr3.8551 |
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