SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

Lin, Yuh-Charn; Niceta, Marcello; Muto, Valentina; Vona, Barbara; Pagnamenta, Alistair T.; Maroofian, Reza; Beetz, Christian; van Duyvenvoorde, Hermine; Dentici, Maria Lisa; Lauffer, Peter; Vallian, Sadeq; Ciolfi, Andrea; Pizzi, Simone; Bauer, Peter; Gruening, Nana-Maria; Bellacchio, Emanuele; Del Fattore, Andrea; Petrini, Stefania; Shaheen, Ranad; Tiosano, Dov; Halloun, Rana; Ben Pode-Shakked; Albayrak, Hatice Mutlu; Isik, Emreguel; Wit, Jan M.; Dittrich, Marcus; Freire, Bruna L.; Bertola, Debora R.; Jorge, Alexander A. L.; Barel, Ortal; Sabir, Ataf H.; Al Tenaiji, Amal M. J.; Taji, Sulaima M.; Al-Sannaa, Nouriya; Al-Abdulwahed, Hind; Digilio, Maria Cristina; Irving, Melita; Anikster, Yair; Bhavani, Gandham S. L.; Girisha, Katta M.; Haaf, Thomas; Taylor, Jenny C.; Dallapiccola, Bruno; Alkuraya, Fowzan S.; Yang, Ruey-Bing; Tartaglia, Marco

dc.contributor.author	Vona, Barbara
dc.date.accessioned	2021-08-27T12:00:05Z
dc.date.available	2021-08-27T12:00:05Z
dc.date.issued	2021
dc.identifier.issn	1537-6605
dc.identifier.uri	http://hdl.handle.net/10900/118311
dc.language.iso	en	en
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2020.11.015
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling	de_DE
dc.type	Article	de_DE
utue.quellen.id	20210512015105_01287
utue.publikation.seiten	115-133	de_DE
utue.personen.roh	Lin, Yuh-Charn
utue.personen.roh	Niceta, Marcello
utue.personen.roh	Muto, Valentina
utue.personen.roh	Vona, Barbara
utue.personen.roh	Pagnamenta, Alistair T.
utue.personen.roh	Maroofian, Reza
utue.personen.roh	Beetz, Christian
utue.personen.roh	van Duyvenvoorde, Hermine
utue.personen.roh	Dentici, Maria Lisa
utue.personen.roh	Lauffer, Peter
utue.personen.roh	Vallian, Sadeq
utue.personen.roh	Ciolfi, Andrea
utue.personen.roh	Pizzi, Simone
utue.personen.roh	Bauer, Peter
utue.personen.roh	Gruening, Nana-Maria
utue.personen.roh	Bellacchio, Emanuele
utue.personen.roh	Del Fattore, Andrea
utue.personen.roh	Petrini, Stefania
utue.personen.roh	Shaheen, Ranad
utue.personen.roh	Tiosano, Dov
utue.personen.roh	Halloun, Rana
utue.personen.roh	Ben Pode-Shakked
utue.personen.roh	Albayrak, Hatice Mutlu
utue.personen.roh	Isik, Emreguel
utue.personen.roh	Wit, Jan M.
utue.personen.roh	Dittrich, Marcus
utue.personen.roh	Freire, Bruna L.
utue.personen.roh	Bertola, Debora R.
utue.personen.roh	Jorge, Alexander A. L.
utue.personen.roh	Barel, Ortal
utue.personen.roh	Sabir, Ataf H.
utue.personen.roh	Al Tenaiji, Amal M. J.
utue.personen.roh	Taji, Sulaima M.
utue.personen.roh	Al-Sannaa, Nouriya
utue.personen.roh	Al-Abdulwahed, Hind
utue.personen.roh	Digilio, Maria Cristina
utue.personen.roh	Irving, Melita
utue.personen.roh	Anikster, Yair
utue.personen.roh	Bhavani, Gandham S. L.
utue.personen.roh	Girisha, Katta M.
utue.personen.roh	Haaf, Thomas
utue.personen.roh	Taylor, Jenny C.
utue.personen.roh	Dallapiccola, Bruno
utue.personen.roh	Alkuraya, Fowzan S.
utue.personen.roh	Yang, Ruey-Bing
utue.personen.roh	Tartaglia, Marco
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	1	de_DE
dcterms.isPartOf.ZS-Volume	108	de_DE
utue.fakultaet	04 Medizinische Fakultät