Novel LOXL3 -associated stickler syndrome-like phenotype: a case report
Author:
Affiliation:
1. Department of Ophthalmology, Queensland Children’s Hospital, Brisbane, Australia
2. Genetic Health Queensland, Royal Brisbane and Women’s Hospital, Brisbane, Australia
Funder
associated
Publisher
Informa UK Limited
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2024.2369273
Reference10 articles.
1. LOXL3 Function Beyond Amino Oxidase and Role in Pathologies, Including Cancer
2. The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia
3. Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia;Li J;Mol Vis,2016
4. Paternal isodisomy for chromosome 2 as the cause of Crigler–Najjar type I syndrome
5. Mortier G. Stickler syndrome. In: Adam M, Feldman J Mirzaa G, et al. editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. 2000, Jun 9 [Updated 2023 Sep 7]. https://www.ncbi.nlm.nih.gov/books/NBK1302/.
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