Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Rad, Aboulfazl; Najafi, Maryam; Suri, Fatemeh; Abedini, Soheila; Loum, Stephen; Karimiani, Ehsan Ghayoor; Daftarian, Narsis; Murphy, David; Doosti, Mohammad; Moghaddasi, Afrooz; Ahmadieh, Hamid; Sabbaghi, Hamideh; Rajati, Mohsen; Hashemi, Narges; Vona, Barbara; Schmidts, Miriam

dc.contributor.author	Rad, Aboulfazl
dc.contributor.author	Loum, Stephen
dc.contributor.author	Vona, Barbara
dc.date.accessioned	2023-01-16T08:38:15Z
dc.date.available	2023-01-16T08:38:15Z
dc.date.issued	2022
dc.identifier.issn	1750-1172
dc.identifier.uri	http://hdl.handle.net/10900/135371
dc.language.iso	en	de_DE
dc.publisher	Bmc	de_DE
dc.relation.uri	http://dx.doi.org/10.1186/s13023-022-02244-6	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome	de_DE
dc.type	Article	de_DE
utue.quellen.id	20220728000000_01697
utue.personen.roh	Rad, Aboulfazl
utue.personen.roh	Najafi, Maryam
utue.personen.roh	Suri, Fatemeh
utue.personen.roh	Abedini, Soheila
utue.personen.roh	Loum, Stephen
utue.personen.roh	Karimiani, Ehsan Ghayoor
utue.personen.roh	Daftarian, Narsis
utue.personen.roh	Murphy, David
utue.personen.roh	Doosti, Mohammad
utue.personen.roh	Moghaddasi, Afrooz
utue.personen.roh	Ahmadieh, Hamid
utue.personen.roh	Sabbaghi, Hamideh
utue.personen.roh	Rajati, Mohsen
utue.personen.roh	Hashemi, Narges
utue.personen.roh	Vona, Barbara
utue.personen.roh	Schmidts, Miriam
dcterms.isPartOf.ZSTitelID	Orphanet Journal of Rare Diseases	de_DE
dcterms.isPartOf.ZS-Issue	Article 97	de_DE
dcterms.isPartOf.ZS-Volume	17 (1)	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE