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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 -
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
(Journal of Medical Genetics. vol. 60, n° 6, pp. 620-626, 2023-06-01)Article de revue -
Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians.
(Archives de Pédiatrie. vol. 31, n° 5, pp. 320-325, 2024-07-01)Article de revue