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Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome |
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| Authors: | Van Houdt Jeroen K J Nowakowska Beata Anna Sousa Sérgio B van Schaik Barbera D C Seuntjens Eve Avonce Nelson Sifrim Alejandro Abdul-Rahman Omar A van den Boogaard Marie-José H Bottani Armand Castori Marco Cormier-Daire Valérie Deardorff Matthew A Filges Isabel Fryer Alan Fryns Jean-Pierre Gana Simone Garavelli Livia Gillessen-Kaesbach Gabriele Hall Bryan D Horn Denise Huylebroeck Danny Klapecki Jakub Krajewska-Walasek Malgorzata Kuechler Alma Lines Matthew A Maas Saskia Macdermot Kay D McKee Shane Magee Alex de Man Stella A Moreau Yves Morice-Picard Fanny Obersztyn Ewa Pilch Jacek |
| Affiliation: | Center for Human Genetics, Catholic University Leuven, University Hospital Gasthuisberg, Leuven, Belgium. |
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| 本文献已被 PubMed 等数据库收录！ | |