Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

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Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

Author: Tiong Yang Tan; Gonzaga-Jauregui, Claudia; Bhoj, Elizabeth J.; Strauss, Kevin A.; Brigatti, Karlla; Puffenberger, Erik; Li, Dong; Xie, LiQin; Das, Nanditha; Skubas, Ioanna; Deckelbaum, Ron A.; Hughes, Virginia; Brydges, Susannah; Hatsell, Sarah; Siao, Chia-Jen; Dominguez, Melissa G.; Economides, Aris; Overton, John D.; Mayne, Valerie; Simm, Peter J.; Jones, Bryn O.; Eggers, Stefanie; Le Guyader, Gwenael; Pelluard, Fanny; Haack, Tobias B.; Sturm, Marc; Riess, Angelika; Waldmueller, Stephan; Hofbeck, Michael; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Hakonarson, Hakon; Baker, Naomi L.; Farlie, Peter G.
Tübinger Autor(en):
Haack, Tobias
Sturm, Marc
Hofbeck, Michael
Rieß, Angelika
Waldmüller, Stephan
Published in: American Journal of Human Genetics (2017), Bd. 101, H. 6, S. 985-994
Verlagsangabe: Cell Press
Language: English
Full text: http://dx.doi.org/10.1016/j.ajhg.2017.10.006
ISSN: 1537-6605
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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