A CASE OF HYPOTRICHOSIS WITH JUVENILE MACULAR DYSTROPHY
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Ophthalmology,General Medicine
Reference8 articles.
1. . Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin.;Sprecher;Nat Genet,2001
2. Homozygous Deletion in CDH3 and hypotrichosis with juvenile macular dystrophy.;Halford;Arch Ophthalmol,2012
3. . Hypotrichosis with juvenile macular dystrophy: clinical and electrophysiological assessment of visual function.;Leibu;Ophthalmology,2006
4. . Distinct CDH3 mutations causes ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).;Kjaer;J Med Genet,2005
5. . Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy.;Indelman;Clin Exp Dermatol,2007
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1. The first reported case of CDH3-related hypotrichosis with juvenile macular dystrophy from Jordan: a case report;Ophthalmic Genetics;2022-01-17
2. Hypotrichosis with juvenile macular dystrophy;Ophthalmic Genetics;2019-11-02
3. Hypotrichosis with juvenile macular dystrophy: Combination of whole‐genome sequencing and genome‐wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole‐exome sequencing—A lesson from next‐generation sequencing;Molecular Genetics & Genomic Medicine;2019-09-27
4. A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia;American Journal of Ophthalmology Case Reports;2019-09
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