A homozygousPAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis

A homozygousPAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis

Mousty E,Issa S,Grosjean F,Col J,Khau Van Kien P,Perez M,Petrov Y,Reboul D,Faubert E,Le Gac M,Bondurand N,Chiesa J,Pingault V

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