A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl.
In: Clinical Case Reports, Jg. 12 (2024-02-01), Heft 2, S. 1-6
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. 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. [ABSTRACT FROM AUTHOR]
Titel: |
A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl.
|
---|---|
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 |
Link: | |
Zeitschrift: | Clinical Case Reports, Jg. 12 (2024-02-01), Heft 2, S. 1-6 |
Veröffentlichung: | 2024 |
Medientyp: | academicJournal |
ISSN: | 2050-0904 (print) |
DOI: | 10.1002/ccr3.8551 |
Schlagwort: |
|
Sonstiges: |
|