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
Author:
Publisher
Elsevier BV
Subject
Dermatology
Reference13 articles.
1. Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome?;Khumalo;Br J Dermatol,2006
2. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations;Mercier;Orphanet J Rare Dis,2015
3. FAM111B Mutation is associated with inherited exocrine pancreatic dysfunction;Seo;Pancreas,2016
4. Syndromic inherited poikiloderma due to a de novo mutation in FAM111B;Takeichi;Br J Dermatol,2017
5. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis;Mercier;Am J Hum Genet,2013
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1. Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma negatively regulates telomere length;Frontiers in Cell and Developmental Biology;2023-06-05
2. High FAM111B expression predicts aggressive clinicopathologic features and poor prognosis in ovarian cancer;Translational Oncology;2023-06
3. Pan-Cancer Analysis of the Tumorigenic Effect and Prognostic Diagnostic Value of FAM111B in Human Carcinomas;International Journal of General Medicine;2023-05
4. Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma syndrome negatively regulates telomere length;2023-01-23
5. FAM111B dysregulation promotes malignancy in fibrosarcoma and POIKTMP and a low-cost method for its mutation screening;Cancer Treatment and Research Communications;2023
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