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Further insights in trichothiodistrophy: A clinical, microscopic, and ultrastructural study of 20 cases and literature review by Ferrando, Juan, Mir Bonafé, José M., Cepeda Valdés, Rodrigo, Domínguez, Anna, Ocampo Candiani, Jorge, García Veigas, Javier, Gómez Flores, Minerva, Salas Alanís, Julio César

“…Conclusions: TTD phenotype has greatly varied from very subtle forms to severe alterations such as neurologic abnormalities, blindness, lamellar ichthyosis and gonadal malformations. …”
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