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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2017-09-01
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| Series: | American Journal of Ophthalmology Case Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S245199361630158X |