Article
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
JAMA ophthalmology - 1 Sept 2016
Hull Sarah, Arno Gavin, Robson Anthony G, Broadgate Suzanne, Plagnol Vincent, McKibbin Martin, Halford Stephanie, Michaelides Michel, Holder Graham E, Moore Anthony T, Khan Kamron N, Webster Andrew R
Abstract excerpt
IMPORTANCE: Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is a rare disorder presenting in childhood and adolescence with central visual disturbance and sparse scalp hair. Reported retinal imaging is lacking, and whether the condition is progressive remains unclear. OBJECTIVE: To investigate a series of patients with HJMD due to biallelic mutations in CDH3 and thereby characterize the disorder....
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