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BACKGROUND Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to(More)
When dental agenesis is encountered, several treatment solutions can be considered: extraction of the primary tooth and closure of the space or, alternatively, conservation of the space with the primary tooth still on the arch until a prosthesis can be placed. In the presence of premolar agenesis, the corresponding primary molar may be infra-occluded(More)
BACKGROUND In the last ten years, national rare disease networks have been established in France, including national centres of expertise and regional ones, with storage of patient data in a bioinformatics tool. The aim was to contribute to the development and evaluation of health strategies to improve the management of patients with rare diseases. The(More)
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