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Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).
(Biochimica et Biophysica Acta - Molecular Basis of Disease. vol. 1870, n° 1, pp. 166856, 2023-08-26)Article de revue -
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
(American Journal of Medical Genetics Part A. vol. 191, n° 1, pp. 52-63, 2023-01-01)Article de revue -
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
(Clinical Genetics. vol. 104, n° 5, pp. 554-563, 2023-11-01)Article de revue