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

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.

dc.contributor.author	Haack, Tobias
dc.contributor.author	Sturm, Marc
dc.contributor.author	Hofbeck, Michael
dc.contributor.author	Riess, Angelika
dc.contributor.author	Waldmüller, Stephan
dc.date.accessioned	2019-03-19T10:07:43Z
dc.date.available	2019-03-19T10:07:43Z
dc.date.issued	2017
dc.identifier.issn	1537-6605
dc.identifier.uri	http://hdl.handle.net/10900/87114
dc.language.iso	en	de_DE
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2017.10.006	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190131163842_00064
utue.publikation.seiten	985-994	de_DE
utue.personen.roh	Tiong Yang Tan
utue.personen.roh	Gonzaga-Jauregui, Claudia
utue.personen.roh	Bhoj, Elizabeth J.
utue.personen.roh	Strauss, Kevin A.
utue.personen.roh	Brigatti, Karlla
utue.personen.roh	Puffenberger, Erik
utue.personen.roh	Li, Dong
utue.personen.roh	Xie, LiQin
utue.personen.roh	Das, Nanditha
utue.personen.roh	Skubas, Ioanna
utue.personen.roh	Deckelbaum, Ron A.
utue.personen.roh	Hughes, Virginia
utue.personen.roh	Brydges, Susannah
utue.personen.roh	Hatsell, Sarah
utue.personen.roh	Siao, Chia-Jen
utue.personen.roh	Dominguez, Melissa G.
utue.personen.roh	Economides, Aris
utue.personen.roh	Overton, John D.
utue.personen.roh	Mayne, Valerie
utue.personen.roh	Simm, Peter J.
utue.personen.roh	Jones, Bryn O.
utue.personen.roh	Eggers, Stefanie
utue.personen.roh	Le Guyader, Gwenael
utue.personen.roh	Pelluard, Fanny
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Sturm, Marc
utue.personen.roh	Riess, Angelika
utue.personen.roh	Waldmueller, Stephan
utue.personen.roh	Hofbeck, Michael
utue.personen.roh	Steindl, Katharina
utue.personen.roh	Joset, Pascal
utue.personen.roh	Rauch, Anita
utue.personen.roh	Hakonarson, Hakon
utue.personen.roh	Baker, Naomi L.
utue.personen.roh	Farlie, Peter G.
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	6	de_DE
dcterms.isPartOf.ZS-Volume	101	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE