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Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of FAM111B
Autores principales: | Dokic, Yelena, Albahrani, Yasser, Phung, Thuy, Patel, Kalyani, de Guzman, Marietta, Hertel, Paula, Hunt, Raegan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7701006/ https://www.ncbi.nlm.nih.gov/pubmed/33294546 http://dx.doi.org/10.1016/j.jdcr.2020.09.025 |
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