Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variant-Reference-Cited by-同舟云学术

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Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variant

Published:2021-12 Issue:6 Volume:25 Page:370-373
ISSN:1091-8531
Container-title:Journal of American Association for Pediatric Ophthalmology and Strabismus
language:en
Short-container-title:Journal of American Association for Pediatric Ophthalmology and Strabismus

Author:

Pandey Brianna,Belnap Newell,Balak Chris,Huentelman Matt,Ramsey Keri,Narayanan Vinodh,Plotnik James

Publisher

Elsevier BV

Subject

Ophthalmology,Pediatrics, Perinatology and Child Health

Reference10 articles.

1. BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies;Borck;Genome Res,2015

2. BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies;Jee;Clin Genet,2017

3. Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1;Valenzuela;Am J Med Genet Part A,2020

4. Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics;Fagerberg;Mol Cell Proteomics,2014

5. Molecular genetics of congenital cataracts;Li;Exp Eye Res,2020

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