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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

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Description scientific article
Author/s

author: Myriam Oufadem  Sabine Sigaudy  Patrick Nitschké  Christine Bôle-Feysot  Christopher T Gordon  Marnie Blewitt  Jeanne Amiel  Holger Thiele  Janine Altmüller  Nicola Ragge  Frederique Magdinier  Hicham Filali  Ruth McGowan  Stanislas Lyonnet  Peter Nürnberg  James Murphy  Gökhan Yigit  Nadine Rosin  Janine Altmüller  Dieter Meschede  Bernd Wollnik  Hulya Kayserili 

Publication date January 9, 2017
Language English
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