A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia

PURPOSE: We describe a unique case of CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) and DNAH5-related primary ciliary dyskinesia (PCD) with progressive vision loss in a young Indian female without positive family history. Both mutations in this patient have not been previously de...

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Dades bibliogràfiques
Publicat a:Am J Ophthalmol Case Rep
Autors principals: Fan, Kenneth C., Patel, Nimesh A., Yannuzzi, Nicolas A., Prakhunhungsit, Supalert, Negron, Catherin I., Basora, Elisa, Colin, Andrew A., Tekin, Mustafa, Berrocal, Audina M.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2019
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6579934/
https://ncbi.nlm.nih.gov/pubmed/31431935
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajoc.2019.100486
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