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Phenotypic spectrum associated with CASK loss-of-function mutations.(Report)

Moog, Ute ; Kutsche, Kerstin ; Kortum, Fanny ; Chilian, Bettina ; Bierhals, Tatjana ; Apeshiotis, Neophytos ; Balg, Stefanie ; Chassaing, Nicolas ; Coubes, Christine ; Das, Soma ; Engels, Hartmut ; Van Esch, Hilde ; Grasshoff, Ute ; Heise, Marisol ; Isidor, Bertrand ; Jarvis, Joanna ; Koehler, Udo ; Martin, Thomas ; Oehl - Jaschkowitz, Barbara ; Ortibus, Els ; Pilz, Daniela T ; Prabhakar, Prab ; Rappold, Gudrun ; Rau, Isabella ; Rettenberger, Gunther ; Schluter, Gregor ; Scott, Richard H ; Shoukier, Moonef ; Wohlleber, Eva ; Zirn, Birgit ; Dobyns, William B ; Uyanik, Gokhan

Journal of Medical Genetics, Nov, 2011, Vol.48(11), p.741(10) [Peer Reviewed Journal]

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