A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia

Sharkia, Rajech; Zalan, Abdelnaser; Jabareen-Masri, Azhar; Hengel, Holger; Schoels, Ludger; Kessel, Amit; Azem, Abdussalam; Mahajnah, Muhammad

dc.contributor.author	Hengel, Holger
dc.contributor.author	Schöls, Ludger
dc.date.accessioned	2020-04-22T06:49:42Z
dc.date.available	2020-04-22T06:49:42Z
dc.date.issued	2019
dc.identifier.issn	1552-4833
dc.identifier.uri	http://hdl.handle.net/10900/99759
dc.language.iso	en	de_DE
dc.publisher	Wiley	de_DE
dc.relation.uri	http://dx.doi.org/10.1002/ajmg.a.61168	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190926111821_00868
utue.publikation.seiten	1338-1345	de_DE
utue.personen.roh	Sharkia, Rajech
utue.personen.roh	Zalan, Abdelnaser
utue.personen.roh	Jabareen-Masri, Azhar
utue.personen.roh	Hengel, Holger
utue.personen.roh	Schoels, Ludger
utue.personen.roh	Kessel, Amit
utue.personen.roh	Azem, Abdussalam
utue.personen.roh	Mahajnah, Muhammad
dcterms.isPartOf.ZSTitelID	American Journal of Medical Genetics Part A	de_DE
dcterms.isPartOf.ZS-Issue	7	de_DE
dcterms.isPartOf.ZS-Volume	179	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE