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Síndrome de Birt-Hogg-Dubé, en un paciente con clínica cutánea y mutación en el exón 12 del gen BHD: c.1429 C > T;p.R477X
Birt-Hogg-Dubé syndrome in a patient with cutaneous symptoms and a c.1429 C > T;p.R477X mutation in exon 12 of the folliculin gene
I. Fuertes
, J.M. Mascaró-Galy, J. Ferrando
Servicio de Dermatología. Hospital Clínic. Universidad de Barcelona. Barcelona. España
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