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-Reference-Cited by-同舟云学术

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

Published:2017-03 Issue:2 Volume:3 Page:143-150
ISSN:2352-5126
Container-title:JAAD Case Reports
language:en
Short-container-title:JAAD Case Reports

Author:

Goussot Raphaëlle,Prasad Megana,Stoetzel Corinne,Lenormand Cédric,Dollfus Hélène,Lipsker Dan

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. Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications;International Journal of Molecular Sciences;2024-02-29

2. Poikiloderma Syndromes;Rook's Textbook of Dermatology;2024-02-20

3. Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma negatively regulates telomere length;Frontiers in Cell and Developmental Biology;2023-06-05

4. High FAM111B expression predicts aggressive clinicopathologic features and poor prognosis in ovarian cancer;Translational Oncology;2023-06

5. Pan-Cancer Analysis of the Tumorigenic Effect and Prognostic Diagnostic Value of FAM111B in Human Carcinomas;International Journal of General Medicine;2023-05