Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of FAM111B

por Dokic, Yelena, Albahrani, Yasser, Phung, Thuy, Patel, Kalyani, de Guzman, Marietta, Hertel, Paula, Hunt, Raegan
Publicado 2020