Identification of missense MAB21L1 variants in microphthalmia and aniridia-Reference-Cited by-同舟云学术

Identification of missense MAB21L1 variants in microphthalmia and aniridia

Published:2021-05-24 Issue:7 Volume:42 Page:877-890
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Seese Sarah E.¹²,Reis Linda M.¹,Deml Brett¹,Griffith Christopher³,Reich Adi⁴,Jamieson Robyn V.⁵,Semina Elena V.¹²⁶^ORCID

Affiliation:

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

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

3. Department of Pediatrics University of South Florida Tampa Florida USA

4. GeneDx Gaithersburg Maryland USA

5. Eye Genetics Research Unit, Sydney Children's Hospitals Network and Children's Medical Research Institute University of Sydney Sydney New South Wales Australia

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

Funder

National Eye Institute

National Science Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24218

Reference70 articles.

1. cGAS produces a 2′-5′-linked cyclic dinucleotide second messenger that activates STING

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3. Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

4. Pattern formation in the nematode epidermis: determination of the arrangement of peripheral sense organs in the C. elegans male tail

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