A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome
11 auth. E. Pohl, A. Aykut, Filippo Beleggia, E. Karaca, B. Durmaz, Katharina Keupp, ... E. Arslan, M. Onay, G. Yigit, F. Özkınay, B. Wollnik