A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl
In: Clinical Case Reports, Jg. 12 (2024), Heft 2, S. n/a-n/a
Online
academicJournal
Zugriff:
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 ; Kadidia Oumar Touré ; Coulibaly, Youlouza ; Alassane Baneye Maiga ; Bamba, Salia ; Diallo, Dramane ; Diarra, Salimata ; Taméga, Abdoulaye ; Traoré, Oumou ; Kotioumbé, Mahamadou ; Moussa Aly Sangaré ; Hamidou Oumar Ba ; Simaga, Assiatou ; Fatogoma Issa Koné ; Samassekou, Oumar ; Koné, Amadou ; Cheick Oumar Guinto ; Landouré, Guida ; the H3Africa consortium |
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Zeitschrift: | Clinical Case Reports, Jg. 12 (2024), Heft 2, S. n/a-n/a |
Veröffentlichung: | Wiley, 2024 |
Medientyp: | academicJournal |
ISSN: | 2050-0904 (print) |
DOI: | 10.1002/ccr3.8551 |
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