A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency von Paganini, I., Sestini, R., Capone, G.L., Putignano, A.L., Contini, E., Giotti, I., Gensini, F., Marozza, A., Barilaro, A., Porfirio, B., Papi, L.

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