Characterization of CDH3-related congenital hypotrichosis with juvenile macular dystrophy

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.To investigate a series of p...

詳細記述

書誌詳細
主要な著者: Hull, S, Arno, G, Robson, A, Broadgate, S, Plagnol, V, McKibbin, M, Halford, S, Michaelides, M, Holder, G, Moore, A, Khan, K, Webster, A
フォーマット: Journal article
言語:English
出版事項: American Medical Association 2016