Compound heterozygous splicing CDON variants result in isolated ocular coloboma-Reference-Cited by-同舟云学术

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Compound heterozygous splicing CDON variants result in isolated ocular coloboma

Published:2020-08-17 Issue:5 Volume:98 Page:486-492
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Reis Linda M.¹,Basel Donald¹,McCarrier Julie¹,Weinberg David V.²,Semina Elena V.¹²³^ORCID

Affiliation:

1. Department of Pediatrics, Children's Research Institute Medical College of Wisconsin and Children's Wisconsin Milwaukee Wisconsin USA

2. Department of Ophthalmology and Visual Sciences Medical College of Wisconsin Milwaukee Wisconsin USA

3. Department of Cell Biology, Neurobiology and Anatomy Medical College of Wisconsin Milwaukee Wisconsin USA

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Eye Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13824

Reference35 articles.

1. Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma

2. Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

3. Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts

4. ABCB6 Mutations Cause Ocular Coloboma

5. Mutation of SALL2 causes recessive ocular coloboma in humans and mice

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Optic cup morphogenesis across species and related inborn human eye defects;Development;2023-01-15

2. Glycyrrhizic Acid and Compound Probiotics Supplementation Alters the Intestinal Transcriptome and Microbiome of Weaned Piglets Exposed to Deoxynivalenol;Toxins;2022-12-04

3. Novel Compound Heterozygous Variations in MPDZ Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family;Cells;2022-11-14

4. Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma ( MAC ) from a consanguineous population;Clinical Genetics;2020-09-03

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