Associated Papers
Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature.
Hoeger PH et al.
Pediatric Dermatology, 2023
Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma negatively regulates telomere length.
Kliszczak M et al.
Frontiers in Cell and Developmental Biology, 2023
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
Mutation in FAM111B Causes Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis.
Chen F et al.
Acta Dermato-venereologica, 2019
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