A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference25 articles.
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2. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin;Sprecher;Nat Genet,2001
3. CDH3 gene related hypotrichosis and juvenile macular dystrophy - a case with a novel mutation;Karti;Am J Ophthalmol Case Rep,2017
4. CDH3-Related syndromes: report on a new mutation and overview of the genotype-phenotype correlations;Basel-Vanagaite;Mol Syndromol,2010
5. A case of hypotrichosis with juvenile macular dystrophy;Mason;Retin Cases Brief Rep,2015
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1. A novel homozygous RSPH4A variant in a family with primary ciliary dyskinesia and literature review;Frontiers in Genetics;2024-05-16
2. Rhodopsin mislocalization drives ciliary dysregulation in a novel autosomal dominant retinitis pigmentosa knock‐in mouse model;The FASEB Journal;2024-04-22
3. Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report;BMC Ophthalmology;2021-07-23
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