Percorrer por autor "Carneiro-Freitas, R"
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- Hypotrichosis with Juvenile Macular DystrophyPublication . Almeida, FT; Carneiro-Freitas, R; Caldas, R; Vieira, APHypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disease, characterized by hypotrichosis and progressive macular degeneration, leading to blindness in the first three decades of life. It is associated with mutations in the cadherin 3 gene, resulting in the abnormal expression of P-cadherin. We report a case of a 4-year-old female patient diagnosed with this genodermatosis.