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Journal Article
Pohl, Esther, Aykut, Ayca, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Karaca, Emin, Durmaz, Burak, Keupp, Katharina, Arslan, Esra, Onay, Melis Palamar, Yigit, Goekhan, Ozkinay, Ferda and Wollnik, Bernd (2013). A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome. Hum. Genet., 132 (11). S. 1311 - 1321. NEW YORK: SPRINGER. ISSN 1432-1203