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CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
PURPOSE: CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal-recessive entity characterized by congenital sparse scalp hair and macular dystrophy, leading to severe central visual loss. We report a family with HJMD caused by a novel CDH3 gene mutation and review the mut...
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| 出版年: | Am J Ophthalmol Case Rep |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Elsevier
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5722150/ https://ncbi.nlm.nih.gov/pubmed/29260097 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajoc.2017.06.007 |
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