Case Report: Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) Presenting With Liver Cirrhosis and Steroid-Responsive Interstitial Pneumonia

Background: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is an extremely rare disease caused by mutations in FAM111B, and only approximately 30 cases have been reported worldwide. Some patients develop interstitial pneumonia, which may lead t...

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Detalles Bibliográficos
Autores principales: Takimoto-Sato, Michiko, Miyauchi, Toshinari, Suzuki, Masaru, Ujiie, Hideyuki, Nomura, Toshifumi, Ikari, Tomoo, Nakamura, Tomohiko, Takahashi, Kei, Matsumoto-Sasaki, Machiko, Kimura, Hirokazu, Kimura, Hiroki, Matsui, Yuichiro, Kitagataya, Takashi, Yamada, Ren, Suzuki, Kazuharu, Nakamura, Akihisa, Nakai, Masato, Sho, Takuya, Ogawa, Koji, Sakamoto, Naoya, Yamaguchi, Naoko, Otsuka, Noriyuki, Tomaru, Utano, Konno, Satoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9117717/
https://www.ncbi.nlm.nih.gov/pubmed/35601499
http://dx.doi.org/10.3389/fgene.2022.870192

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