A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency
I. Paganini; R. Sestini; G.L. Capone; A.L. Putignano; E. Contini; I. Giotti; F. Gensini; A. Marozza; A. Barilaro; B. Porfirio; L. Papi
Author Information: Department of Experimental and Clinical Biomedical Sciences “Mario Serio,” Medical Genetics Unit
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