Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants

Publication date: Available online 27 February 2021Source: Molecular Genetics and MetabolismAuthor(s): Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Elena Martín-Hernández, Cristina Durán-Aparicio, Abraham Merino-López, Enrique Medina-Benítez, Francisco Martínez-Azorín
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research