Publication:
Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum

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dc.contributor.authorsGuo, Long; Elcioglu, Nursel H; Wang, Zheng; Demirkol, Yasemin K; Isguven, Pinar; Matsumoto, Naomichi; Nishimura, Gen; Miyake, Noriko; Ikegawa, Shiro
dc.date.accessioned2022-03-02T05:40:05Z
dc.date.accessioned2026-01-11T10:34:21Z
dc.date.available2022-03-02T05:40:05Z
dc.date.issued2017-12
dc.identifier.doi10.1038/hgv.2017.40
dc.identifier.issn2054-345X
dc.identifier.issue1
dc.identifier.pages17040
dc.identifier.urihttps://hdl.handle.net/11424/218567
dc.identifier.volume4
dc.language.isoeng
dc.relation.urihttp://www.nature.com/articles/hgv201740
dc.titleNovel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum
dc.typearticle
dspace.entity.typePublication

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