New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies-Reference-Cited by-同舟云学术

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New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

Published:2018-02-20 Issue:8-9 Volume:138 Page:1027-1042
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Ceroni Fabiola, ,Aguilera-Garcia Domingo,Chassaing Nicolas,Bax Dorine Arjanne,Blanco-Kelly Fiona,Ramos Patricia,Tarilonte Maria,Villaverde Cristina,da Silva Luciana Rodrigues Jacy,Ballesta-Martínez Maria Juliana,Sanchez-Soler Maria Jose,Holt Richard James,Cooper-Charles Lisa,Bruty Jonathan,Wallis Yvonne,McMullan Dominic,Hoffman Jonathan,Bunyan David,Stewart Alison,Stewart Helen,Lachlan Katherine,Fryer Alan,McKay Victoria,Roume Joëlle,Dureau Pascal,Saggar Anand,Griffiths Michael,Calvas Patrick,Ayuso Carmen,Corton Marta,Ragge Nicola K

Funder

Oxford Brookes University Central Research Fund

Retina France

Fondation Maladies Rares

Spanish Institute of Health Carlos III

Spanish Ministry of Economy and Competitiveness

Mutua Madrileña Foundation and Cátedra de Patrocinio UAM-IIS-FJD of Genomic Medicine

Health Innovation Challenge Fund

Baillie Gifford

Visually Impaired Children Taking Action

Microphthalmia, Anophthalmia, Coloboma Support

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s00439-018-1875-2/fulltext.html

Reference75 articles.

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2. Balikova I, de Ravel T, Ayuso C, Thienpont B, Casteels I, Villaverde C, Devriendt K, Fryns JP, Vermeesch JR (2011) High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations. Am J Ophthalmol 151(6):1087–1094.e45

3. Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E et al (2016) Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genet Med 18(4):341–349

4. Berthoud VM, Minogue PJ, Yu H, Schroeder R, Snabb JI, Beyer EC (2013) Connexin50D47A decreases levels of fiber cell connexins and impairs lens fiber cell differentiation. Invest Ophthalmol Vis Sci 54(12):7614–7622

5. Beyer EC, Ebihara L, Berthoud VM (2013) Connexin mutants and cataracts. Front Pharmacol 4:43

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