A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl.
Clin Case Rep
; 12(2): e8551, 2024 Feb.
Article
em En
| MEDLINE
| ID: mdl-38415192
ABSTRACT
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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MEDLINE
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Ano de publicação:
2024
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Article