Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment-Reference-Cited by-同舟云学术

Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment

Published:2021-02-25 Issue:5 Volume:29 Page:881-886
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Nash Benjamin M.^ORCID,Watson Christopher J. G.,Hughes Edward,Hou Alec L.,Loi To Ha,Bennetts Bruce,Jelovic Diana,Polkinghorne Philip J.,Gorbatov Mark,Grigg John R.^ORCID,Vincent Andrea L.^ORCID,Jamieson Robyn V.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-021-00820-1.pdf

Reference21 articles.

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3. Paassilta P, Lohiniva J, Annunen S, Bonaventure J, Le Merrer M, Pai L, et al. COL9A3: A third locus for multiple epiphyseal dysplasia. Am J Hum Genet. 1999;64:1036–44.

4. Nakashima E, Kitoh H, Maeda K, Haga N, Kosaki R, Mabuchi A, et al. Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia. Am J Med Genet A. 2005;132A:181–4.

5. Asamura K, Abe S, Fukuoka H, Nakamura Y, Usami S. Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients. Auris Nasus Larynx. 2005;32:113–7.

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