Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

Yu Sun, Rowida Almomani, Emmelien Aten, Jacopo Celli, Jaap Van Der Heijden, Hanka Venselaar, Stephen P. Robertson, Anna Baroncini, Brunella Franco, Lina Basel-Vanagaite, Emiko Horii, Ricardo Drut, Yavuz Ariyurek, Johan T. Den Dunnen, Martijn H. Breuning

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Biochemistry, Genetics and Molecular Biology

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