Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
Arq. bras. oftalmol; 80 (1), 2017
ABSTRACT Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair caused by hair follicle abnormalities as well as progressive retinal degeneration leading to blindness in the second or third decade of life. It is associated with mutations of...