Associated Papers
Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.
Vignard V et al.
Ebiomedicine, 2025
Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature.
Hoeger PH et al.
Pediatric Dermatology, 2023
Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.
Ferré EMN et al.
Frontiers in Immunology, 2023
Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.
Macchiaiolo M et al.
American Journal of Medical Genetics. Part A, 2022
Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases.
Arowolo A et al.
Experimental Dermatology, 2022
Case Report: Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) Presenting With Liver Cirrhosis and Steroid-Responsive Interstitial Pneumonia.
Takimoto-Sato M et al.
Frontiers in Genetics, 2022
Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition.
Roversi G et al.
Genetics and Molecular Biology, 2021
Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM111B mutation.
Zhang Z et al.
The Journal of Dermatology, 2019
FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction.
Seo A et al.
Pancreas, 2016
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