Cargando…
Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
Autores principales: | Goussot, Raphaëlle, Prasad, Megana, Stoetzel, Corinne, Lenormand, Cédric, Dollfus, Hélène, Lipsker, Dan |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5358901/ https://www.ncbi.nlm.nih.gov/pubmed/28349113 http://dx.doi.org/10.1016/j.jdcr.2017.01.002 |
Ejemplares similares
-
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
por: Mercier, Sandra, et al.
Publicado: (2015) -
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, et al.
Publicado: (2020) -
Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma negatively regulates telomere length
por: Kliszczak, Maciej, et al.
Publicado: (2023) -
Hereditary Sclerosing Poikiloderma
por: Lee, Hyo Jin, et al.
Publicado: (2012) -
Case Report: Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) Presenting With Liver Cirrhosis and Steroid-Responsive Interstitial Pneumonia
por: Takimoto-Sato, Michiko, et al.
Publicado: (2022)