Rothmund-Thomson syndrome--a single case report with systemic muscular atrophy, multiple organ fibrosis and pulmonary cachexia
Author:
Publisher
Oxford University Press (OUP)
Subject
Pharmacology (medical),Rheumatology
Link
http://academic.oup.com/rheumatology/article-pdf/51/11/2109/5025637/kes143.pdf
Reference5 articles.
1. Rothmund-Thomson Syndrome
2. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients
3. Kongenitale Poikilodermie vom Typus verrucosus des Thomson-Syndroms mit assoziierter Myopathie
4. Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome?
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1. 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;2022-05-05
2. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations;Orphanet Journal of Rare Diseases;2015-10-15
3. CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP);European Journal of Human Genetics;2015-10-07
4. Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis;The American Journal of Human Genetics;2013-12
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