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Symptômes et descriptif

L’anémie de Fanconi ou maladie de Fanconi est une affection génétique rare avec une fréquence estimée à 1/350.000 naissances en France.

Elle doit son nom au pédiatre suisse Guido Fanconi qui, en 1927, a décrit cette maladie chez des enfants issus de vallées alpines où l’isolement géographique favorisait la consanguinité. Elle survient de façon égale chez les hommes et les femmes ainsi que dans tous les groupes ethniques.

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