Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia

Beyltjens, Tessi; Boudin, Eveline; Revencu, Nicole; Boeckx, Nele; Bertrand, Miriam; Schuetz, Leon; Haack, Tobias B.; Weber, Axel; Biliouri, Eleni; Vinksel, Mateja; Zagozen, Anja; Peterlin, Borut; Pai, Shashidhar; Telegrafi, Aida; Henderson, Lindsay B.; Ells, Courtney; Turner, Lesley; Wuyts, Wim; Van Hul, Wim; Hendrickx, Gretl; Mortier, Geert R.

dc.contributor.author	Bertrand, Miriam
dc.contributor.author	Schütz, Leon
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2023-11-06T08:30:38Z
dc.date.available	2023-11-06T08:30:38Z
dc.date.issued	2023
dc.identifier.issn	0022-2593
dc.identifier.uri	http://hdl.handle.net/10900/147135
dc.language.iso	en	de_DE
dc.publisher	Bmj Publishing Group	de_DE
dc.relation.uri	http://dx.doi.org/10.1136/jmg-2022-108739	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia	de_DE
dc.type	Article	de_DE
utue.quellen.id	20230619000000_02007
utue.publikation.seiten	498-504	de_DE
utue.personen.roh	Beyltjens, Tessi
utue.personen.roh	Boudin, Eveline
utue.personen.roh	Revencu, Nicole
utue.personen.roh	Boeckx, Nele
utue.personen.roh	Bertrand, Miriam
utue.personen.roh	Schuetz, Leon
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Weber, Axel
utue.personen.roh	Biliouri, Eleni
utue.personen.roh	Vinksel, Mateja
utue.personen.roh	Zagozen, Anja
utue.personen.roh	Peterlin, Borut
utue.personen.roh	Pai, Shashidhar
utue.personen.roh	Telegrafi, Aida
utue.personen.roh	Henderson, Lindsay B.
utue.personen.roh	Ells, Courtney
utue.personen.roh	Turner, Lesley
utue.personen.roh	Wuyts, Wim
utue.personen.roh	Van Hul, Wim
utue.personen.roh	Hendrickx, Gretl
utue.personen.roh	Mortier, Geert R.
dcterms.isPartOf.ZSTitelID	Journal of Medical Genetics	de_DE
dcterms.isPartOf.ZS-Issue	5	de_DE
dcterms.isPartOf.ZS-Volume	60	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE