Author:
Küry Sébastien,Mercier Sandra,Shaboodien Gasnat,Besnard Thomas,Barbarot Sébastien,Khumalo Nonhlanhla P,Mayosi Bongani M,Bézieau Stéphane
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference12 articles.
1. Khumalo NP, Pillay K, Beighton P et al: Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome? Br J Dermatol 2006; 155: 1057–1061.
2. Mercier S, Küry S, Shaboodien G et al: Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet 2013; 93: 1100–1107.
3. Seo A, Walsh T, Lee MK, King M-C, Shimamura A Expansion of the fibrosing poikiloderma phenotype caused by FAM111B to include cytopenia and pancreatic dysfunction. Abstract #2948M. Presented at the 64th Annual Meeting of The American Society of Human Genetics, 20 October 2014, San Diego, CA, USA.
4. Meier M, Schwarz A : Rothmund-Thomson syndrome—a single case report with systemic muscular atrophy, multiple organ fibrosis and pulmonary cachexia. Rheumatology 2012; 51: 2109–2111.
5. Otsu U, Moriwaki S, Iki M, Nozaki K, Horiguchi Y, Kiyokane K : Early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction: a peculiar variant of Rothmund-Thomson syndrome? Eur J Dermatol 2008; 18: 632–634.
Cited by
9 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