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
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
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of FAM111B.
Dokic Y et al.
Jaad Case Reports, 2020
Select a paper to view details