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El médico llevará a cabo un examen físico y preguntará si hay antecedentes familiares de xerodermia pigmentosa.
Un examen ocular puede mostrar:
Los siguientes exámenes pueden ayudar a diagnosticar el trastorno en un bebé antes del nacimiento:
Los siguientes exámenes pueden ayudar a diagnosticar el trastorno después del nacimiento:
Abeloff MD, Armitage JO, Niederhuber JE, Kastan MB, McKena WG. Clinical Oncology. 3rd ed. Orlando, Fl: Churchill Livingstone; 2004.
Kumar V, Abbas AK, Fausto N. Robbins and Cotran Pathologic Basis of Disease. 7th ed. St. Louis, Mo: WB Saunders; 2005.
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