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Publicação
Hypotrichosis with Juvenile Macular Dystrophy
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Orientador(es)
Resumo(s)
Hypotrichosis 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.
Descrição
Palavras-chave
Hipotricose Degeneração Macular
Contexto Educativo
Citação
Int J Trichology. 2018 Sep-Oct;10(5):234-236.