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...

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Hlavní autoři: Hull, S, Arno, G, Robson, A, Broadgate, S, Plagnol, V, McKibbin, M, Halford, S, Michaelides, M, Holder, G, Moore, A, Khan, K, Webster, A
Médium: Journal article
Jazyk:English
Vydáno: American Medical Association 2016