Hereditary fibrosing poikiloderma ( <scp>POIKTMP</scp> syndrome) report of a new mutation and review of the literature-Reference-Cited by-同舟云学术

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Hereditary fibrosing poikiloderma ( POIKTMP syndrome) report of a new mutation and review of the literature

Published:2022-09-14 Issue:1 Volume:40 Page:182-187
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatric Dermatology

Author:

Hoeger Peter H.¹²^ORCID,Koehler Lisa M.¹²,Reipschlaeger Maria¹,Mercier Sandra³⁴

Affiliation:

1. Department of Pediatrics Catholic Children's Hospital Wilhelmstift Hamburg Germany

2. Department of Pediatric Dermatology Catholic Children's Hospital Wilhelmstift Hamburg Germany

3. CHU Nantes, Service de génétique médicale, Centre de Référence des Maladies Neuromusculaires AOC, Filnemus, Euro‐NMD Nantes France

4. Nantes Université, CNRS, INSERM, l'Institut du Thorax Nantes France

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.15133

Reference21 articles.

1. Inherited skin disorders presenting with poikiloderma

2. Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome?

3. Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis

4. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

5. FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A photo‐distributed rash and eczematous eruptions in two siblings—A diagnostic conundrum;Australasian Journal of Dermatology;2024-04-22

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

3. Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia;Frontiers in Genetics;2023-12-22

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

5. Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma syndrome negatively regulates telomere length;2023-01-23

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