Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome-Reference-Cited by-同舟云学术

Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome

Published:2023-12-05 Issue: Volume: Page:
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Dong Shuqian,Zou Tongdan,Zhen Fangyuan,Wang Ting,Zhou Yongwei,Wu Jiahui,Nagata Tatsuo,Matsushita Itsuka,Gong Bo,Kondo Hiroyuki^ORCID,Li Qiuming^ORCID,Zhang Houbin^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-023-01503-9.pdf

Reference40 articles.

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3. Richardson R, Sowden J, Gerth-Kahlert C, Moore AT, Moosajee M. Clinical utility gene card for: non-syndromic microphthalmia including next-generation sequencing-based approaches. Eur J Hum Genet. 2017;25:512.

4. Reis LM, Semina EV. Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma. Birth Defects Res C Embryo Today. 2015;105:96–113.

5. Ceroni, Aguilera-Garcia F, Chassaing D, Bax DA N, Blanco-Kelly F, Ramos P, et al. New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. Hum Genet. 2019;138:1027–42.

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