Pohl, EstherAykut, AycaBeleggia, FilippoKaraca, EminDurmaz, BurakKeupp, KatharinaArslan, EsraPalamar, MelisYigit, GoekhanÖzkınay, FerdaWollnik, Bernd2019-10-272019-10-2720130340-67171432-1203https://doi.org/10.1007/s00439-013-1341-0https://hdl.handle.net/11454/49009en10.1007/s00439-013-1341-0info:eu-repo/semantics/openAccessA hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome (vol 132, pg 1311, 2013)Other1321113211321WOS:000325706500012Q1